research Molecular basis of hypohidrotic ectodermal dysplasia: an update
Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
Search
for
Sort by
Research
180-210 / 1000+ results 
research What causes hidradenitis suppurativa ?—15 years after
Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.
research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
FGF5 gene mutations cause long hair in domestic cats.
research Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.
A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Skin Keratins
Keratins are important for skin cell health and their problems can cause diseases.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization
FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Characterization of the Promoter Regions of Two Sheep Keratin-Associated Protein Genes for Hair Cortex-Specific Expression
The KRTAP11-1 gene promoter is crucial for specific expression in sheep wool cortex.
research Somatic Mutations in Normal Tissues: New Perspectives on Early Carcinogenesis
Cancer risk is linked to the balance of mutations and environmental factors, not just the number of mutations.
research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPH mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Clonal analysis of stem cells in differentiation and disease
New techniques have enhanced our understanding of how stem cells function and the role of mutations in aging tissues, which may influence future cancer therapies.
research Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations
Male mice with FGF5 mutations grow longer hair than females.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice
Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
research Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels
A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Skin Stem Cells: At the Frontier Between the Laboratory and Clinical Practice. Part 1: Epidermal Stem Cells
Epidermal stem cells show promise for future dermatology treatments due to ongoing advancements.
research Woolly Antics between the Sheaths
Lipase H is important for hair follicle function and shaping hair fibers.
research Cyproterone Acetate: A Genotoxic Carcinogen?
Cyproterone acetate may cause liver cancer at high doses, but is considered safe at recommended doses for approved uses.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
research A missense mutation in Lama3 causes androgen alopecia
A gene mutation in Lama3 is linked to a common type of hair loss.