research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
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research Hair follicle stem cell progeny heal blisters while pausing skin development
Skin healing from blisters can delay hair growth as stem cells focus on repairing skin over developing hair.
research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Frequent downregulation of DMBT1 and galectin‐3 in epithelial skin cancer
DMBT1 and galectin-3 may help suppress epithelial skin cancer.
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 Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research Pharmacotherapy of plexiform neurofibromas in patients with neurofibromatosis type 1. Possible adverse events and their management
Selumetinib effectively reduces tumor size in many children with neurofibromatosis type 1, but can cause skin and hair issues.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research Superiority of dutasteride over finasteride in hair regrowth and reversal of miniaturization in men with androgenetic alopecia: A randomized controlled open-label, evaluator-blinded study
Dutasteride is more effective than finasteride at increasing hair count and reversing hair thinning in men with hair loss, but both have similar side effects.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research [Regulation of hair follicle cycle].
Hair growth is controlled by cycles influenced by hormones and various signals.
research The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal–Epidermal Junction of Mouse Skin
Certain skin proteins can form anchoring structures without the protein AMACO.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Integrated Multi-Omics Analysis Reveals Dysregulated Lipid Metabolism as a Novel Mechanism in Androgenetic Alopecia
Dysregulated lipid metabolism may play a role in male pattern baldness.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Hair Follicle Pigmentation
Hair color is determined by melanin produced and transferred in hair follicles.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research Pathomechanisms of immune-mediated alopecia
The study concluded that immune cells attacking hair follicles cause hair loss in alopecia, with genetics and environment also playing a role, and highlighted the potential of certain treatments.
research Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
research Male infertility and genitourinary birth defects: there is more than meets the eye
Male infertility and genitourinary birth defects are often linked to genetic issues.