Search
for
Sort by
Research 151–180 of 1000+
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
- Cutaneous transcriptome analysis in NIH hairless mice
- Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
- Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Targeted inactivation of integrin-linked kinase in hair follicle stem cells reveals an important modulatory role in skin repair after injury
- Human ClinicalPhenotype Associated with FOXN1 Mutations
- Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
- Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
- Keep quiet—how stress regulates hair follicle stem cells
- Data_Sheet_1_Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.docx
- Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development
- Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression
- Mimicking Hair Disorders by Genetic Manipulation of Organ-Cultured Human Hair Follicles
- Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
- Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
- Uncombable hair in a case of Zellweger syndrome – A new association
- Lipoatrophy and severe metabolic disturbance in mice with fat-specific deletion of PPARγ
- Progressive Hair Loss and Myocardial Degeneration in Rough Coat Mice: Reduced Lysyl Oxidase-Like (LOXL) in the Skin and Heart
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
- Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
- Acyl-CoA binding protein and epidermal barrier function
- <i>TRPS1</i> mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
- Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
- Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
- Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
- AP-2α/AP-2β transcription factors are key regulators of epidermal homeostasis
- 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation