research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
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research Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype
The TRPV3 gene variant may cause the long-haired suri alpaca coat.
research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
research Vitamin D receptor gene polymorphisms are not associated with alopecia areata
Vitamin D receptor gene variations are not linked to alopecia areata.
research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome
Certain gene variations are found in people with polycystic ovary syndrome.
research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.
research Isozyme phenotypes of polyoma virus tumors in mice.
DNA virus-induced tumors have consistent isozyme profiles, unlike other tumor types.
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 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 A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research TON1 recruiting motif 21 positively regulates the flavonoid metabolic pathway at the translational level in Arabidopsis thaliana
TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
research SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
research Association of estrogen receptor gene variants (ESR1 and ESR2) with polycystic ovary syndrome in Tunisia
Certain gene variants in estrogen receptors are linked to polycystic ovary syndrome, mainly affecting metabolism, in Tunisian women.
research Association of methionine synthase gene polymorphisms with wool production and quality traits in Chinese Merino population12
The MTR gene affects wool quality and production in Chinese Merino sheep.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Hair Cycle Control by Vanilloid Receptor-1 (TRPV1): Evidence from TRPV1 Knockout Mice
TRPV1 helps regulate hair growth cycles.
research Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans
Certain DNA variants can predict straight hair in Europeans but are not highly specific.
research Expression and tissue distribution analysis of vimentin and transthyretin proteins associated with coat colors in sheep (Ovis aries)
Vimentin and transthyretin proteins are linked to black coat color in sheep.
research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research The association of Wnt – Factor TCF7L2 (TCF4) gene polymorphism and treated Alopecia Areata (Platelet rich plasma Vs conventional)
TCF7L2 gene polymorphism is linked to alopecia areata, but it doesn't affect the success of PRP or conventional treatments.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research TRPV3 Ion Channel: From Gene to Pharmacology
The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
research Dual Tumors — Trichoadenoma of Nikolowski and Melanocytic Naevi
A person had two different benign skin tumors, a trichoadenoma and melanocytic naevi, at the same time but in different places on the face.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
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 The Influence of the MDR1 C3435T Polymorphism on Methotrexate Responsiveness in Rheumatoid Arthritis Patients
The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.
research Role of Transient Receptor Potential Vanilloid 4 Channel in Skin Physiology and Pathology
TRPV4 channel affects skin health and could be a target for treating skin disorders.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.