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    Research 301–330 of 1000+

    1. Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease Journal of Cell Science · 2008 · 85 citations
    2. A temperature-sensitive <i>FERONIA</i> mutant allele that alters root hair growth PLANT PHYSIOLOGY · 2020 · 37 citations
    3. Strategies for High-Efficiency Mutation Using the CRISPR/Cas System Frontiers in Cell and Developmental Biology · 2022 · 29 citations
    4. Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease Cell Reports · 2022 · 14 citations
    5. Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes 2021 · 11 citations
    6. Skin morphology of the mutant hairless USP mouse Brazilian Journal of Medical and Biological Research · 2005 · 11 citations
    7. <i>PIK3CA</i> gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect Proceedings of the National Academy of Sciences · 2025
    8. Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene Archives of Dermatological Research · 2005 · 20 citations
    9. Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes American Journal of Medical Genetics Part A · 2021 · 16 citations
    10. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome ˜The œAmerican journal of case reports · 2018 · 14 citations
    11. Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage Reproductive biomedicine online · 2017 · 3 citations
    12. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001 · 130 citations
    13. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    14. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    15. Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice Cell death and disease · 2014 · 16 citations
    16. When whorls collide: the development of hair patterns in frizzled 6 mutant mice Development · 2010 · 55 citations
    17. Functional characterization of soybean strigolactone biosynthesis and signaling genes in Arabidopsis MAX mutants and GmMAX3 in soybean nodulation BMC Plant Biology · 2017 · 43 citations
    18. Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene Yonsei Medical Journal · 2018 · 13 citations
    19. Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor Springer eBooks · 2016
    20. An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess Endocrinology · 2013 · 27 citations
    21. Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene Mammalian Genome · 2022
    22. Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers Cancers · 2022 · 10 citations
    23. Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene Journal of Veterinary Internal Medicine · 2009 · 30 citations
    24. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i> Science · 2006 · 194 citations
    25. Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1 American journal of medical genetics. Part A · 2022
    26. Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia ˜The œAmerican journal of pathology · 2000 · 179 citations
    27. Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex Veterinary Pathology · 2023 · 2 citations
    28. The Hairless Phenotype of the Hirosaki Hairless Rat Is Due to the Deletion of an 80-kb Genomic DNA Containing Five Basic Keratin Genes Journal of Biological Chemistry · 2008 · 35 citations
    29. Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease PloS one · 2019 · 5 citations
    30. Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study African Journal of Urology · 2023 · 4 citations