Search
for
Sort by
Research 511–540 of 1000+
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
- Hes1 regulates anagen initiation and hair follicle regeneration through modulation of hedgehog signaling
- Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
- Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- A Homozygous Frameshift Mutation in the<i>HOXC13</i>Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
- Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
- Epigenetic regulation of 5α reductase-1 underlies adaptive plasticity of reproductive function and pubertal timing
- KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
- Characterisation of Ovine KRTAP19-3 and Its Impact on Wool Traits in Chinese Tan Sheep
- The RpoS Gatekeeper in Borrelia burgdorferi: An Invariant Regulatory Scheme That Promotes Spirochete Persistence in Reservoir Hosts and Niche Diversity
- Comparative genomics analyses of alpha-keratins reveal insights into evolutionary adaptation of marine mammals
- WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
- Identification of Ovine KRTAP28-1 and Its Association with Wool Fibre Diameter
- Human ClinicalPhenotype Associated with FOXN1 Mutations
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
- Exploring Variation in Ovine KRTAP19-5 and Its Effect on Fine Wool Fibre Curvature in Chinese Tan Sheep
- A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
- The Two Functional Keratin 6 Genes of Mouse Are Differentially Regulated and Evolved Independently from Their Human Orthologs
- Elucidating the roles of three β-glucuronosyltransferases (GLCATs) acting on arabinogalactan-proteins using a CRISPR-Cas9 multiplexing approach in Arabidopsis
- A comparison of transcriptomic patterns measured in the skin of Chinese fine and coarse wool sheep breeds
- Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
- Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
- A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
- Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
- Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
- Identification of functional circRNAs regulating ovarian follicle development in goats