research The Role of the Hairless (hr) Gene in the. Regulation of Hair Follicle Catagen Transformation
The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
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research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research Improved 2α-Hydroxylation Efficiency of Steroids by CYP154C2 Using Structure-Guided Rational Design
Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
research Fibroproliferative genes are preferentially expressed in central centrifugal cicatricial alopecia
Genes linked to fibrosis are more active in people with central centrifugal cicatricial alopecia.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research CD98hc (SLC3A2) regulation of skin homeostasis wanes with age
CD98hc's role in skin health decreases with age.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.
research Cell Cycle Regulation and Regeneration
Mice that can regenerate tissue have cells that pause in the cell cycle, which is important for healing, similar to axolotls.
research THE GENETICS OF CYP GENE VARIANTS IN ASSOCIATION WITH POLYCYSTIC OVARY SYNDROME: A NARRATIVE REVIEW
Genetic variants in CYP genes may worsen PCOS symptoms.
research Lithium alters mitotic progression in stamen hair cells of Tradescantia in a time-dependent and reversible fashion.
Lithium temporarily stops cell division in plant cells, but this can be reversed with certain chemicals.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice
Hair loss in certain mice is linked to changes in keratin-related genes.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research LB919 Increased risk of skin cancer and other malignancies in patients with cutaneous lupus erythematous
Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.
research Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction
Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease
Basal cell carcinomas need extra mutations to grow from small to large tumors.