research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
Search
for
Sort by
Research
270-300 / 1000+ results
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Characterization of DNA Methylation and Screening of Epigenetic Markers in Polycystic Ovary Syndrome
DNA methylation changes in women with PCOS could be used as disease markers and suggest new treatment targets.
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 Protocol for Self-Assembled Human Hair Keratins
research Skin l ‐tryptophan‐2,3‐dioxygenase and rat hair growth
A new enzyme in rats may help regulate hair growth.
research The use of diphencyprone in dermatology: A retospective audit
Diphencyprone treatment protocols could be simplified as no harm occurred despite not fully following them.
research Polymorphism of CAG and GGN repeats of androgen receptor gene in women with polycystic ovary syndrome
Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research The RpoS Gatekeeper in Borrelia burgdorferi: An Invariant Regulatory Scheme That Promotes Spirochete Persistence in Reservoir Hosts and Niche Diversity
RpoS helps Borrelia burgdorferi survive in hosts and adapt to different environments.
research Diguanoside tetraphosphate (Gp₄G) is an epithelial cell and hair growth regulator.
Gp₄G promotes hair growth and improves skin health.
research Smart DNA biosensor for in vitro detection of androgen receptor mRNA
A new easy-to-use biosensor was made to detect androgen receptor mRNA, which could help diagnose related conditions quickly.
research Simultaneous Typing of Erythrocyte Acid Phosphatase, Adenylate Kinase and Adenosine Deaminase in Human Hair Root Sheaths
Hair root sheaths can be used to accurately analyze genetic markers.
research Cell Membrane-Camouflaged Nanoparticles Mediated Nucleic Acids Delivery
Cell membrane-coated nanoparticles could improve gene therapy by enhancing delivery and targeting of nucleic acids.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research PD02-05 SRD5A2 EXPRESSION IS A PREDICTOR OF RESPONSE TO FINASTERIDE IN THE MTOPS TRIAL
Higher SRD5A2 expression predicts better response to finasteride in treating urinary symptoms.
research DNMT3B -579G>T POLYMORPHİSM AND THE RİSK OF COLORECTAL CANCER IN AZERBAİJAN POPULATİON
The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
research LB1045 Inhibition of pyruvate oxidation activates human hair follicle stem cells ex vivo
PP405 may help hair growth by activating hair follicle stem cells.
research Deferoxamine protects cochlear hair cells and hair cell-like HEI-OC1 cells against tert-butyl hydroperoxide-induced ototoxicity
Deferoxamine may help protect inner ear cells from damage caused by oxidative stress.
research Methylated CpG dinucleotides in 5-α reductase 2 gene might explain the finasteride-resistance in BPE patients
Methylated gene parts may cause finasteride-resistance in some enlarged prostate patients.
research Role of Ornithine Decarboxylase in Human Hair Follicles
Ornithine decarboxylase is crucial for human hair growth and the hair cycle.
research The RAIG Family Member, GPRC5D, Is Associated with Hard-Keratinized Structures
GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
research LIGA R and D and prototyping[Lithography, Electroforming, and Assembly]
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Finasteride in polycythaemia
research Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome
There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
research Targeting olfactory receptor OR2AT4: An innovative aptamer-based treatment for hair growth promotion
A new treatment using a DNA aptamer can promote hair growth by targeting a specific receptor.
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 Dermal Delivery of Topically Applied Oligonucleotides via Follicular Transport in Mouse Skin
Topical oligonucleotide therapy targets hair follicles effectively.