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750-780 / 1000+ resultsresearch Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Pharmacophore and Atom Based 3D QSAR Studies on the Novel 5-Alpha-Reductase Inhibitors
The developed model can predict effective 5-alpha-reductase enzyme inhibitors.
research Genotype score associated with the risk of androgenetic alopecia.
research Aromatase deficiency in a male patient - Case report and review of the literature.
A male with aromatase deficiency improved bone health with estradiol treatment.
research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research The association of cytosine-adenine-guanine repeat polymorphism in the androgen receptor gene with nodulocystic acne in Egyptian patients
Certain gene variations are linked to severe acne in Egyptian patients and could guide treatment choices.
research Molecular insights into the formation of drug-polymer inclusion complex
The research shows how certain drugs can form stable structures with polymers, which is important for making new pharmaceuticals.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research Kinetic Studies with Transglutaminases
Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
research Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research Whole-Genome Resequencing Reveals Selection Signal Related to Sheep Wool Fineness
Genes linked to wool fineness in sheep have been identified.
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 Faculty Opinions recommendation of Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
Six new genes linked to early hair loss were found, which also surprisingly connect to Parkinson's disease and lower fertility.
research Exploring Variation in Ovine KRTAP19-5 and Its Effect on Fine Wool Fibre Curvature in Chinese Tan Sheep
The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Polymorphisms of FST gene and their association with wool quality traits in Chinese Merino sheep
Certain genetic variations in the FST gene are linked to better wool quality in Chinese Merino sheep.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research The Aromatase Inhibitor Fadrozole and the 5-Reductase Inhibitor Finasteride Affect Gonadal Differentiation and Gene Expression in the Frog Silurana tropicalis
Fadrozole and Finasteride change frog sex ratios and cause intersex animals with altered gene expressions.
research 783 Influence of TNF gene polymorphism in patients with acute and fulminnant hepatitis
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Chemical Mechanism of the Covalent Modification of 5.alpha.-Reductases by Finasteride as Probed by Secondary Tritium Isotope Effects
Finasteride modifies 5-alpha-reductases through a two-step process, affecting inhibitor potency and possibly causing side effects.
research An in vivo method for the detection of somatic mutations at the cellular level in mice
A new method can detect mutations in mice by observing changes in hair follicle cells.
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 The oestrogen receptor 2 (ESR2) gene in female-pattern hair loss: replication of association with rs10137185 in German patients
ESR2 gene linked to female-pattern hair loss.