1,620 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Ataxia-pancytopenia syndrome with SAMD9L mutations
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5570676/
  3. academic.oup.com academic.oup.com
    Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella
    1
    1. ClingenBaseline 21 Oct 2026
      FSIP2_4

      CaseFSIP2_4 male, 43yo report, Tunisian

      CasePresentingHPOs HP:0003251, HP:0012207, HP:0012868

      (male infertility, asthenospermia, sperm tail anomaly)

      HPOsFreeText Sperm volume: 1.7mL, sperm concentration: 49.5 million/mL, total motility: 5h, vitality: 52%, normal spermatozoa: 0%, absent flagella: 6%, short flagella: 70%, coiled flagella: 14%, flagella of irregular caliber: 80%

      CaseNotHPOs n/a

      CasePreviousTesting Previous genetic analysis of DNAH1, CFAP43, and CFAP44 did not end in diagnosis. "Normal somatic karyotypes 46,XY and were negative for Y chromosome microdeletions."

      Variant NM_173651.3(FSIP2):c.16393_16396del (p.Asn5465Glufs)

      ClinVar 586971

      gnomAD not in gnomAD

      CaseAddInfo Consanguineous parents

      CasePMIDs 29449551

      Individual CaseInfo inferred_gene_hgnc:21675 inferred_gene_source:RefSeq UNC Biocuration Core
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    academic.oup.com/humrep/article-abstract/33/10/1973/5071833
  4. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Mutational analysis of the α-l-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1399-0004.2004.00374.x
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
    1
    1. ClingenBaseline 21 Oct 2026
      Table 4Variants associated with a clinical phenotype in ≥5 homozygous subjects

      Variant 1. NM_000512.5:c.901G>T 2. NM_000512.5:c.1156C>T 3. NM_000512.5:c.120+1G>A 4. NM_000512.5:c.346G>A 5. NM_000512.5:c.1171A>G 6. NM_000512.5:c.860C>T 7. NM_000512.5:c.139G>A 8. NM_000512.5:c.280C>T 9. NM_000512.5:c.1019G>A 10. NM_000512.5:c.1168del

      Italics highlight common variants with table 2

      inferred_gene_hgnc:4122 inferred_gene_source:RefSeq UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC9291100/
  6. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia
    1
    1. ClingenBaseline 21 Oct 2026
      Family III

      Family#: Family III

      PresentingHPOs: HP:0003563 (decreased LDL cholesterol)

      PresentingHPOsFreeText: FHBL diagnosis was based on low levels of fasting calculated plasma LDL-C < 50 mg/dL without lipid lowering therapy. Affected relatives were diagnosed by LDL-C < 80 mg/dL and/or ApoB <50 mg/dL.

      FamilyMethod1: Next generation sequencing

      FamilyGenotypingMethod: Next generation sequencing panel for high-throughput sequencing of the coding regions of genes previously linked to FHBL (APOB, PCSK9, ANGPTL3) and ABL (MTTP, SAR1B). Sanger sequencing was performed for validation and co-segregation analysis among family members.

      ProbandLabel: Family III-II:2

      Variant: NM_000384.2:c.8799C>A (p.Cys2933*), heterozygous

      CAID: CA345993342

      gnomAD: Absent

      FamilyInfo inferred_gene_hgnc:603 inferred_gene_source:CAID UNC Biocuration Core
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0021915016301411
  7. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I
    1
    1. ClingenBaseline 21 Oct 2026
      In this study we report the first development of a denaturating high performance liquid chromatography (dHPLC) protocol for the rapid and accurate detection of recently described mutations in the IDUA gene. Optimal PCR running and dHPLC partial denaturing conditions for mutation detection were established for each PCR amplicon corresponding to 14 IDUA exons and their adjacent intronic/flanking sequences. Results: A total of 12 different mutations, 5 nonsense, 4 missense, 1 deletion, and 2 splice site (intron), in 10 MPS I patients were screened. All mutations revealed a distinct dHPLC pattern thus enabling their accurate detection.

      This proband was "described and recently published by Vazna et al." (PMID: 19396826). Patient is compound heterozygous for c.1882C>T (p.Arg628Ter) and c.208C>T (p.Gln70Ter) (P based on classification by the ClinGen Lysosomal Diseases VCEP); phase confirmed in trans. PM3=0 points

      PreviouslyPublished ClinVarID: 550421 CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    pubmed.ncbi.nlm.nih.gov/19954743/
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Prevalence and Natural History of Dominant Optic Atrophy due to OPA1 Mutations
    1
    1. ClingenBaseline 21 Oct 2026
      OA-16c.1635C>Gp.S545R333.71.0-5.020/117020/200 - HM

      Case#: Pedigree OA-16, North of England

      DiseaseAssertion: optic atrophy

      FamilyInfo: 2 additional affected individuals

      CasePresentingHPOs: HP:0000648

      CaseHPOFreeText: Snellen BCVA 20/200 - hand movement, mean age of onset= 3.7yrs

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished: Cautious that they may overlap with the individuals from Hudson et al since both are from England, but the author notes that they "checked against the eOPA1 database (http://lbbma.univ-angers.fr/eOPA1/, Accessed 10-12-09) to determine whether they had been described in previous mutational reports."

      GenotypingMethod: The entire coding region of the OPA1 and OPA3 genes was amplified by PCR and sequenced. Variants were confirmed by reverse sequencing.

      Variant: c.1635C>G; p.S545R

      ClinVar: 30461

      CAID: CA10575554

      SupplementalData:

      Variant:1800C>G CAID:CA10575554 CaseInfo Individual Family FamilyInfo PP1 PS4 inferred_gene_hgnc:8140 inferred_gene_source:CAID UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC4040407/
  9. academic.oup.com academic.oup.com
    Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada
    1
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    academic.oup.com/eurheartj/article/34/13/1002/485100
  10. stm.sciencemag.org stm.sciencemag.org
    The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling
    1
    1. ClingenBaseline 21 Oct 2026
      siblings

      FamilyLabel R07-429

      Family#PresentingHPOs HP:0001263, HP:0003072, HP:0003015, HP:0003300, HP:0000978, HP:0002099, HP:0003193, HP:0002721, HP:0002007, HP:0000316, HP:0000218, HP:0000767, HP:0008905, HP:0003027, HP:0002987, HP:0003049, HP:0001156, HP:0004209, HP:0006380, HP:0006460, HP:0002694, HP:0005930, HP:0011844, HP:0008788, HP:0003155, HP:0002850

      (GDD, Hypercalcemia, Flared metaphyses, Ovoid vertebral bodies, Easy bruising, Asthma, Allergic rhinitis, Immunodeficiency, Frontal bossing, Hypertelorism, High arched palate, Pectus excavatum, Rhizomelia, Mesomelia, Contractures of elbows, Ulnar deviation of the wrist, Brachydactyly, Fifth finger clinodactyly, Knee contractures, Increased laxity of ankles, Sclerosis of skull base, Epiphyseal abnormality, Abnormal appendicular skeleton morphology, Delayed pubic bone ossification, elevated alkaline phosphatase, decreased IgM)

      HPOsFreeText Born at term, significant developmental delay/special education, abnormal brain MRI, severe unclassified immunodeficiency, normal PTH concentration, mild hypercalcemia. Radiographic findings: widened/flared metaphyses with irregular ossification, moth-eaten long bones, fragmentation of the proximal metacarpals, and a distinctive transverse gap seen in the tibias. From table: eczema or atrophoderma, wheel chair bound-unable to bear weight on lower extremities, flattened supraorbital ridges, normal formed and positioned ears, mild pectus excavatum, Mesomelia with significant anterior bowing in the upper and lower extremities, Ulnar deviation at the wrists with laxity, telescoping fingers, Mild knee contractures, Significant laxity at the ankles with positional equinovarus, 2-3 syndactyly, Delayed ossification of the fontanel, Delayed ossification of the basal occipital bone, Delayed ossification of the posterior elements of the spine, Significant metaphyseal irregularities, Epiphyseal delay with irregular epiphyses, Subjectively large distance from the epiphyses to the metaphyseal edge, Ossification defect or gaps in the appendicular skeleton, Brachydactyly with metaphyseal irregularities and epiphyseal delay, IgE <1 (normal <20 IU/ml), CD3 T-lymphocytes 82% (normal 60-76%), Parathyroid hormone intact 19 (normal 11-51 pg/ml). Radiograph additionally showed widened/flared metaphyses with irregular ossifications and irregular ossification front, brachydactyly with irregular metacarpal and phalangeal metaphyses and delayed epiphyseal ossification, absence of pubic bone ossification, and delayed ossification of the basal occipital bone and subjectively increased density of the skull.

      FamilyNotHPOs n/a

      NotHPOsFreeText fixed equinovarus, walked with or without assistance

      CountryOrigin n/a

      Ethnicity n/a

      Race n/a

      Family#PreviousTesting PTH1R coding exons sequenced due to phenotype overlap with JMC. No variants identified.

      ProbandLabel R07-429A

      Variant NM_025164.4(SIK3):c.559C>T (p.Arg187Cys)

      ClinVar 587366

      gnomAD not in gnomAD

      FamilyAddInfo consanguineous

      FamilyPMIDs n/a

      Family FamilyInfo inferred_gene_hgnc:29165 inferred_gene_source:RefSeq UNC Biocuration Core
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    stm.sciencemag.org/content/10/459/eaat9356.full
  11. www.sciencedirect.com www.sciencedirect.com
    A basolateral amygdala to dorsolateral striatum projection modulates stimulus-evoked motor behavior
    1
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    sciencedirect.com/science/article/pii/S0896627326006768
  12. Sep 2026
  13. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Dietary vitamin A restricts intestinal tuft cell differentiation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13589826/
  14. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Endogenous Amphiregulin promotes muscle repair and function through expansion of fibro-adipogenic progenitors during chronic Toxoplasma gondii infection in mice
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13553749/
  15. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Altered striatal long-term potentiation in the eIF4E-TG mouse model of autism spectrum disorder
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13571666/
  16. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ATP13A4 gates extracellular polyamine levels to control excitatory synaptogenesis
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13534584/
  17. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Fluorogenic Tissue-Based Assessment of Acid Ceramidase Activity
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13507976/
  18. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Stress-responsive nucleus accumbens dopamine D2 receptor-expressing neurons modulate cocaine-induced behavioral sensitization
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13506371/
  19. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Goblet cells mechanically breach the epithelial barrier in gut homeostasis
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13518819/
  20. Aug 2026
  21. www.sciencedirect.com www.sciencedirect.com
    CASZ1 regulates the maturation of outer hair cells and is required for hearing in mice
    1
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    sciencedirect.com/science/article/pii/S2589004226027197
  22. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Natural motion statistics unify direction computations
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13484520/
  23. www.sciencedirect.com www.sciencedirect.com
    Cutaneous nonpeptidergic neurons sense extracellular ATP to augment barrier repair and C. albicans host defense
    1
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    sciencedirect.com/science/article/pii/S3051383926001015
  24. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Loss of the Coronary Artery Disease Risk Gene Leiomodin1 in Vascular Smooth Muscle Cells Triggers Rapid Onset Coronary Atherosclerosis
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13440021/
  25. Jul 2026
  26. www.sciencedirect.com www.sciencedirect.com
    Macrocyclic and linear peptides promote LAR dimerization and neurite outgrowth
    1
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    sciencedirect.com/science/article/pii/S002192582602212X
  27. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Cholinergic interneuron control of GABAergic circuits targeting spiny projection neurons is disrupted in parkinsonian models
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC13320840/
  28. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Perfluorooctane sulfonic acid (PFOS) perturbs skeletal muscle oxidative phosphorylation by a different mechanism than liver
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC13335307/
  29. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Microbial metabolite Urolithin A protects against inorganic arsenic-induced gut barrier dysfunction in humanized AS3MT mice
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13348994/
  30. www.sciencedirect.com www.sciencedirect.com
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    1
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    sciencedirect.com/science/article/pii/S0002929717300137
  31. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ODAPH (p.Arg77*) Phenotype and Onset of Ameloblast Pathology During Postsecretory Transition Demonstrated by FIB-SEM Analyses of OdaphC41*/C41* Mice
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC13331816/
  32. May 2026
  33. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Senescent cell clearance ameliorates temporal lobe epilepsy and associated spatial memory deficits in mice
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13198775/
  34. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Spatial single cell transcriptomic analysis informs tumor developmental hierarchy of DICER1 syndrome related sarcoma
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13199431/
  35. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Integrin Trafficking, Fibronectin Architecture, and Glomerular Injury upon Adiponectin Receptor 1 Depletion
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12059104/
  36. Apr 2026
  37. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Latent Epigenetic Programs in Müller Glia Contribute to Stress and Disease Response in the Retina
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12014377/
  38. www.sciencedirect.com www.sciencedirect.com
    The Smarcal1-Usp37 locus modulates glycogen aggregation in astrocytes of the aged hippocampus
    1
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    sciencedirect.com/science/article/pii/S2405471225003217
  39. www.science.org www.science.org
    Stem cell control in the lung by an autocrine injury-activated Igf complex
    1
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    science.org/doi/10.1126/science.adt1310
  40. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    EZH1 in Germ Cells Safeguards the Function of PRC2 during Spermatogenesis
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5389884/
  41. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Topological Segregation of Stress Sensors Along the Gut Crypt-Villus Axis
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12090882/
  42. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Reduced Cortical Pyramidal Neuron Membrane Excitability and Synaptic Function in Parkinsonian Mice and Their Restoration by L-Dopa Treatment: Indirect Mediation by Striatal Dopaminergic Activity
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13024266/
  43. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Intact lymph node homing and CD8+ T-cell priming abilities of Sprouty2-deficient dendritic cells
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13038441/
  44. www.mdpi.com www.mdpi.com
    VEGFR Blockade Reduces Mycobacterium tuberculosis-Induced Lung Pathology in Immunocompromised Mice
    1
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    mdpi.com/2073-4409/15/7/573
  45. www.nature.com www.nature.com
    Adaptive evolution of gene regulatory networks in mammalian neocortex
    1
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    nature.com/articles/s41586-026-10226-y
  46. Mar 2026
  47. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Induction of senescence during postpartum mammary gland involution supports tissue remodeling and promotes postpartum tumorigenesis
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13004681/
  48. link.springer.com link.springer.com
    Dietary folate supplementation modifies effects of arsenic exposure on DNA methylation profiles in sperm of mice expressing the human AS3MT
    1
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    link.springer.com/article/10.1007/s00204-026-04322-1
  49. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mas‐related G protein‐coupled receptor type D deficiency promotes tubulointerstitial injury and fibrosis associated with proteinuria in male mice
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12971248/
  50. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genetic deletion of MrgD receptor disrupts cardiac protein homeostasis in mice
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12967435/
  51. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Dnmt3b Deficiency in Adipocyte Progenitor Cells Ameliorates Obesity in Female Mice
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12840943/
  52. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Presynaptic control of top-down signaling in neocortical layer 1
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12874003/
  53. Feb 2026
  54. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A biometric survey of known and prospective murine models of posterior microphthalmia-nanophthalmia
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12906678/
  55. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Lipid peroxidation and type I interferon coupling fuels pathogenic macrophage activation causing tuberculosis susceptibility
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12490860/
  56. Jan 2026
  57. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Targeting AKT via SC79 for Photoreceptor Preservation in Retinitis Pigmentosa Mouse Models
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12839193/
  58. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Early Rod Dysfunction Influences Cone Development in a Rhodopsin P23H Mouse Model of Retinitis Pigmentosa
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12821531/
  59. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    COPS5 is Essential for Sertoli Cell Function and Male Fertility in Mice
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12776080/
  60. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    RNA modifications, alternative splicing and circular RNA landscape in the mouse brain: inosine and beyond
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12775412/
  61. Dec 2025
  62. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    State-dependent modulation of spiny projection neurons controls levodopa-induced dyskinesia in a mouse model of Parkinson’s disease
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC12674127/
  63. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Subtype- and Layer-Specific Developmental Gradients of Postnatal GABAergic Neurons in the Rodent Barrel Cortex
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12674656/
  64. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Metabolic reprogramming and altered ATP content impair neuroprotective functions of microglia in β-glucocerebrosidase deficiency models
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12648879/
  65. Nov 2025
  66. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12073992/
  67. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Hepatocyte-specific epidermal growth factor receptor (EGFR) deletion attenuates acetaminophen-induced liver injury in mice
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12614225/
  68. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Coro1A and TRIM67 collaborate in netrin-dependent neuronal morphogenesis
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12614643/
  69. Oct 2025
  70. www.nature.com www.nature.com
    Region-specific gene expression and sex inform about disease susceptibility in the aorta
    1
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    nature.com/articles/s44161-025-00692-4
  71. www.biorxiv.org www.biorxiv.org
    Lineage Tracing Reveals a Shared Cellular Origin for Supraclavicular Brown and Inguinal Beige Adipocytes
    1
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    biorxiv.org/content/10.1101/2025.10.02.680118v1
  72. www.biorxiv.org www.biorxiv.org
    Platelets Link Coagulation and Complement in Regulating Placental Vascular Development
    1
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  73. www.biorxiv.org www.biorxiv.org
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  74. www.biorxiv.org www.biorxiv.org
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  75. onlinelibrary.wiley.com onlinelibrary.wiley.com
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  76. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Asymmetric cortical projections to striatal direct and indirect pathways distinctly control actions
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  77. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  78. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  79. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  80. www.sciencedirect.com www.sciencedirect.com
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  81. www.biorxiv.org www.biorxiv.org
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  82. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  83. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  84. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Amelogenin Null Mice Develop Osteoarthritis, While Its Application Mitigates Disease Phenotypes in a Rat Model
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  85. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  86. www.sciencedirect.com www.sciencedirect.com
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  87. Sep 2025
  88. ajpgi.physiology.org ajpgi.physiology.org
    Human Derived Gut Microbiota Modulates Colonic Secretion in Mice by Regulating 5-HT3 Receptor Expression via Acetate Production
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  89. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Protocol for 3D multiplexed fluorescent imaging of pulmonary TB lesions using Opal-TSA dyes for signal amplification
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  90. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Repetitive Levodopa Treatment Drives Cell Type-Specific Striatal Adaptations Associated With Progressive Dyskinesia in Parkinsonian Mice
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  91. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  92. 54.241.53.176 54.241.53.176
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  93. Aug 2025
  94. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  95. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  96. Jul 2025
  97. www.sciencedirect.com www.sciencedirect.com
    PRDM13 is required for specification of PAX2 lineage inhibitory neurons in the developing cerebellum
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  98. www.cell.com www.cell.com
    Imeglimin suppresses glucagon secretion and induces a loss of α cell identity
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  99. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  100. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Epigenetic Programming of Estrogen Receptor in Adipose Tissue by High Fat Diet Regulates Obesity-Induced Inflammation
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  101. www.cell.com www.cell.com
    Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice
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  102. www.mdpi.com www.mdpi.com
    Citrate Transporter Expression and Localization: The Slc13a5Flag Mouse Model
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  103. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    DSP and DPP are dispensable for initiation of dentin and enamel mineralization but critical for circumpulpal dentin mineralization
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  104. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  105. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Excessive firing of dyskinesia-associated striatal direct pathway neurons is gated by dopamine and excitatory synaptic input
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  106. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  107. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  108. Jun 2025
  109. 52.53.155.43 52.53.155.43
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  110. May 2025
  111. www.sciencedirect.com www.sciencedirect.com
    UBE3A controls axon initial segment in the cortical pyramidal neurons
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  112. www.nature.com www.nature.com
    BMAL1–HIF2A heterodimer modulates circadian variations of myocardial injury
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  113. www.science.org www.science.org
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  114. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  115. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  116. Apr 2025
  117. www.medrxiv.org www.medrxiv.org
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  118. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Fat taste responsiveness, but not dietary fat intake, is affected in Adipor1 null mice
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  119. Mar 2025
  120. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Amyloid-β-Driven Synaptic Deficits Are Mediated by Synaptic Removal of GluA3-Containing AMPA Receptors
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  121. Feb 2025
  122. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Sexually Dimorphic Effects of CYP2B6 in the Development of Fasting-Mediated Steatosis in Mice: Role of the Oxylipin Products 9-HODE and 9-HOTrE
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  123. 52.53.155.43 52.53.155.43
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  124. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  125. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ARID1A governs the silencing of sex-linked transcription during male meiosis in the mouse
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  126. Jan 2025
  127. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ARID1A governs the silencing of sex-linked transcription during male meiosis in the mouse
    31
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  128. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Dopamine D2 Receptors in the Paraventricular Thalamus Attenuate Cocaine Locomotor Sensitization
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  129. www.biorxiv.org www.biorxiv.org
    State-dependent modulation of spiny projection neurons controls levodopa-induced dyskinesia in a mouse model of Parkinson’s disease
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  130. www.science.org www.science.org
    Nzf2 promotes oligodendrocyte differentiation and regeneration via repressing HDAC1-mediated histone deacetylation
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  131. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Sensory innervation in the prostate and a role for calcitonin gene-related peptide in prostatic epithelial proliferation
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  132. Dec 2024
  133. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ARID1A governs the silencing of sex-linked transcription during male meiosis in the mouse
    29
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  134. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Serotonin Receptor 5-HT3A Affects Development of Bladder Innervation and Urinary Bladder Function
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  135. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Satb1 regulates Contactin 5 to pattern dendrites of a mammalian retinal ganglion cell
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  136. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees
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  137. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  138. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Corticospinal populations broadcast complex motor signals to coordinated spinal and striatal circuits
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  139. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Dopamine neuron glutamate cotransmission evokes a delayed excitation in lateral dorsal striatal cholinergic interneurons
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  140. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Altered bone growth dynamics prefigure craniosynostosis in a zebrafish model of Saethre-Chotzen syndrome
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  141. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    CGRP Is Critical for Hot Flushes in Ovariectomized Mice
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  142. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mitochondrial oxidant stress promotes α-synuclein aggregation and spreading in mice with mutated glucocerebrosidase
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  143. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Ethanol Modulates Glutamatergic Transmission and NMDAR-Mediated Synaptic Plasticity in the Agranular Insular Cortex
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  144. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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  145. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    AMH regulates a mosaic population of AMHR2-positive cells in the ovarian surface epithelium
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  146. www.sciencedirect.com www.sciencedirect.com
    Genetic loss of Uchl1 leads to female infertility by affecting oocyte quality and follicular development
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  147. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Haploinsufficiency of Syngap1 in striatal indirect pathway neurons alters motor and goal-directed behaviors in mice
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    pmc.ncbi.nlm.nih.gov/articles/PMC11604145/