research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
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research EDA and EDAR expression at different stages of hair follicle development in cashmere goats and effects on expression of related genes
EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
research Role of ASLNC168501 in regulating hair follicle stem cell activity via the AR/miR-128-3p/IGF-1 pathway
ASLNC168501 can help treat hair loss by restoring hair follicle stem cell function.
research Efficacy and tolerability of HDMHG0401-10 in Patients with Androgenetic Alopecia-A Randomized Double-blind Placebo-controlled Trial
HDMHG0401-10 improves hair loss in men with androgenetic alopecia and has no major side effects.
research A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Research Snippets
New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research Regulatory Effects of FGF9 on Dermal Papilla Cell Proliferation in Small-Tailed Han Sheep
FGF9 helps hair follicles grow in small-tailed Han sheep by affecting cell growth and certain signaling pathways.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Structure of human type II 5 alpha-reductase gene.
The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
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.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Characterization of a First Domain of Human High Glycine-Tyrosine and High Sulfur Keratin-associated Protein (KAP) Genes on Chromosome 21q22.1
Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
research Concerted gene duplications in the two keratin gene families
research Overexpression of HE4/WFDC2 gene in mice leads to keratitis and corneal opacity
Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
research HOXC8 initiates an ectopic mammary program by regulating Fgf10 and Tbx3 expression, and Wnt/β-catenin signaling
Hoxc8 gene helps start mammary gland development by controlling specific signals.
research THERAPEUTIC HOTLINE: Genetic variations in the androgen receptor gene and finasteride response in women with androgenetic alopecia mediated by epigenetics
Women with greater androgen sensitivity respond better to finasteride for hair loss.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome
A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
research 217 The adenosine-generating ecto-enzyme CD73 regulates human hair growth
The enzyme CD73 helps control human hair growth and could be targeted to treat hair growth disorders.
research Exploring differential gene expression and biomarker potential in systemic lupus erythematosus: a retrospective study
FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.
research Hairless is a nuclear receptor corepressor essential for skin function
Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
research Exploring Differentially Expressed Genes by RNA-Seq in Cashmere Goat (Capra hircus) Skin during Hair Follicle Development and Cycling
The study found key genes and pathways involved in cashmere goat hair growth stages.
research Gsdma3 is required for hair follicle differentiation in mice
The Gsdma3 gene is essential for normal hair development in mice.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.