research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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research AKT2 Gene Polymorphisms, sRANKL/OPG and Hormone Measurements in Polycystic Ovarian Syndrome (PCOS) Women
Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Identifying causal genes in alopecia areata using integrative analysis of differential expression and Mendelian randomization
Four genes are linked to alopecia areata, with two increasing risk and two offering protection.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
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 Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Lab Quality Management and Methodology
Men with early balding should be checked for metabolic syndrome, as there's a link between the two.
research Association between VEGF gene polymorphisms (11 sites) and polycystic ovary syndrome risk
Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss
Aromatase gene variation may increase female hair loss risk.
research Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds
Certain genes in Iranian sheep are linked to wool production and heat adaptation.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Estudo da diversidade dos genes MC1R e SLC24A5 em populações globais: avaliação de aspectos evolutivos e ambientais
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Association between genetically predicted rheumatoid arthritis and alopecia areata: a two-sample Mendelian randomization study
People with rheumatoid arthritis have a higher risk of developing alopecia areata.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research Vitamin D receptor polymorphisms and the polycystic ovary syndrome: A systematic review
The review found no clear link between vitamin D receptor gene variations and polycystic ovary syndrome.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Association analysis of polymorphisms in six keratin genes with wool traits in sheep
Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
research Androgenetic alopecia risk IDed with genetic test
research Novel associations of VPS13C with phenotype and conversion of idiopathic REM sleep behavior disorder
VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.