research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
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510-540 / 1000+ resultsresearch The effect of GGC and CAG repeat polymorphisms on the androgen receptor gene in response to finasteride therapy in men with androgenetic alopecia
Fewer GGC sequences in the androgen receptor gene improve finasteride treatment for hair loss.
research Polymorphism of keratin-associated protein (KAP) 7 gene and its association with wool traits in Rambouillet sheep
The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.
research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms
Genetic factors influence growth and brain development in children.
research Androgen Receptor (AR) Gene (CAG)n and (GGN)n Length Polymorphisms and Symptoms in Young Males With Long-Lasting Adverse Effects After Finasteride Use Against Androgenic Alopecia
Finasteride side effects in young men may be linked to specific gene variations.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
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 Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes
The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
research Granulomatous skin involvement in a patient with an unusual NOD2 mutation
A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Expression and localization of A rtemis serine 516 phosphorylation in human scalp skin
Artemis phosphorylation at Ser516 may help regulate skin and hair structures.
research Cellular localization of retinoic acid receptor-gamma expression in normal and neoplastic skin.
RAR-gamma 1 is important for normal skin maintenance and differentiation.
research Androgen receptor gene polymorphism and biological age markers in men
AR gene variations don't affect aging markers in men.
research Tumor Necrosis Factor-Alpha and Polycystic Ovarian Syndrome: A Clinical, Biochemical, and Molecular Genetic Study
High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D
A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research 17927 A pilot study of intrascalp platelet-rich plasma injections for hair loss in Nigerian patients
The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
research A 5'-upstream region of a bovine keratin 6 gene confers tissue-specific expression and hyperproliferation-related induction in transgenic mice.
A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
research Effects of KISS1 structural polymorphism on the risk of polycystic ovary syndrome and reproductive hormones in Iraqi women who take metformin
Metformin increases FSH levels in PCOS, and KISS1 gene variations may influence PCOS development.
research Exploring the role of CYP19A1 single nucleotide polymorphisms in the pathogenesis of female pattern hair loss
Certain gene changes and hormone levels are linked to female hair loss.
research Cloning and Characterization of a Mouse Type I Hair Keratin cDNA
research Transcriptome Sequencing and Mass Spectrometry Reveal Genes Involved in the Non-mendelian Inheritance-Mediated Feather Growth Rate in Chicken
The research found specific genes and proteins that affect how fast chickens' feathers grow, which is not solely determined by traditional inheritance patterns.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in Karnataka is influenced by genetics, lifestyle, obesity, and diabetes.
research A genome‐wide association study identified a genetic variant associated with hair thinning in Japanese women
A genetic variant linked to hair thinning in Japanese women was found.
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.