research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
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570-600 / 1000+ results research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research ANALYSIS OF CTLA 4 GENE +49A/G AND CT60 A/G POLYMORPHISMS IN ALOPECIA AREATA PATIENTS
CT60 polymorphism might increase the risk of Alopecia Areata.
research Four-amino acid segment in steroid 5 alpha-reductase 1 confers sensitivity to finasteride, a competitive inhibitor.
Four-amino acid part makes enzyme sensitive to finasteride.
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 The impact of certain genetic variants (single nucleotide polymorphisms) on incidence and severity of COVID‐19
Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
research Androgen receptor gene polymorphism and polycystic ovary syndrome
The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
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 Protein Kinase C δ Overexpressing Transgenic Mice Are Resistant to Chemically but not to UV Radiation–Induced Development of Squamous Cell Carcinomas: A Possible Link to Specific Cytokines and Cyclooxygenase-2
Mice with extra PKCδ resist chemical-induced skin cancer but not UV-induced.
research Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
research A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients
A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.
research The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity
The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
research Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle
Cholesterol transport in hair follicles decreases from growth to regression phase.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
research Association of eNOS and STAT6 Gene Polymorphisms with the Susceptibility of Polycystic Ovary Syndrome in South Indian Women
Certain gene variations may increase the risk of PCOS in South Indian women.
research CXXC5 Mediates DHT-Induced Androgenetic Alopecia via PGD2
Targeting CXXC5 and GSK-3β may help treat male pattern baldness.
research 591 Chromatin architectural protein CTCF regulates terminal keratinocyte differentiation in the developing epidermis and hair follicles
CTCF protein is essential for skin and hair follicle development in mice.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research Booby Trap: Cancer gene spurs production of DNA-assaulting chemicals that alert and defuse rescue molecule (Cancer; Oxidative damage)
The cancer gene c-Myc increases harmful chemicals that damage DNA and can lead to cancer, but antioxidants can reduce this damage.
research Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Molecular characterization of HOXC8 gene and methylation status analysis of its exon 1 associated with the length of cashmere fiber in Liaoning cashmere goat
The methylation of the HOXC8 gene's exon 1 affects cashmere fiber length in goats.
research 855 Targeted deletion of crif1 in mouse skin epidermis impairs skin homeostasis
Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
research Genome-based analysis of the genetic pattern of black sheep in Qira sheep
Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
research Cyproterone acetate and risk of meningioma: a nationwide cohort study
Taking high doses of Cyproterone acetate significantly increases the risk of meningioma in females.
research The heme-responsive PrrH sRNA regulatesPseudomonas aeruginosapyochelin gene expression
PrrH sRNA controls pyochelin gene expression in Pseudomonas aeruginosa based on heme levels.
research Cytoprotective effects of paeoniflorin are associated with translocator protein 18 kDa
Paeoniflorin protects brain cells by involving a specific protein and neurosteroids.