research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
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210-240 / 1000+ resultsresearch 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 Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research The Mouse Hairy Ears Mutation Exhibits an Extended Growth (Anagen) Phase in Hair Follicles and Altered Hoxc Gene Expression in the Ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
research Identification of 736T>A Mutation of Lipase H in Japanese Siblings with Autosomal Recessive Woolly Hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Exploring the Efficacy of Testosterone Undecanoate in Male Children with 5α-Reductase Deficiency
Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.
research Next-Generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research Harlequin Ichthyosis
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Role of FOXN1 in Xenopus Laevis Thymopoiesis
FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
research Collodion Baby to Bathing Suit Ichthyosis: A 6-Year Follow-Up
A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
research Over- And Ectopic-Expression Of FoxN1 At Early Life Adversely Influences Lymphopoiesis
Early over-expression of FoxN1 harms immune and skin development.
research FoxN1 in K14 Promoter-Driven Epithelium Is Required for Generation and Maintenance of 3D-Thymus Medulla and Preventing Nude Phenotype in the Skin
FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
research A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
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 Pseudoxanthoma Elasticum: Progress in Research Toward Treatment - Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research Premature Aging Syndromes: From Patients to Mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Novel and Recurrent Mutations in the AIRE Gene of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) Patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Gene Network Analysis Reveals Candidate Genes Related to Hair Follicle Development in Sheep
Key genes crucial for sheep hair follicle development were identified, aiding fine wool breeding and human hair loss research.
research Approach to Androgen Excess in Women: Clinical and Biochemical Insights
The document concludes that a systematic approach is crucial to identify causes of androgen excess in women beyond the most common cause, Polycystic ovary syndrome (PCOS).
research Transglutaminase Activity Is Conserved in Stratified Epithelia and Skin Appendages of Mammals and Birds
Transglutaminase activity is important for skin and is found in both mammals and birds.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Wnt/β-Catenin Signaling Stabilizes Hemidesmosomes in Keratinocytes
Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Challenges in Treatment of Patients With Non-Classic Congenital Adrenal Hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research HtrA1L364P Leads to Cognitive Dysfunction and Vascular Destruction Through TGF-β/Smad Signaling Pathway in CARASIL Model Mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.