research Variation in the caprine keratin-associated protein 15-1 (KAP15-1) gene affects cashmere fibre diameter
The KRTAP15-1 gene affects cashmere fiber thickness in goats.
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450-480 / 1000+ results research Two Hydroxyproline Galactosyltransferases, GALT5 and GALT2, Function in Arabinogalactan-Protein Glycosylation, Growth and Development in Arabidopsis
GALT5 and GALT2 are important for plant growth and development because they help with protein glycosylation.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Evaluation of androgen receptor gene as a candidate gene in female androgenetic alopecia
AR gene not major factor in female hair loss; different from male hair loss.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Alopecia Universalis Associated with a Mutation in the Human hairless Gene
A mutation in the human hairless gene causes alopecia universalis.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Microsporum gypseum isolated from a feline case of dermatophytosis
A young cat had a rare fungal infection caused by Microsporum gypseum.
research The Genetic Architecture of Alopecia Areata
Genetic discoveries are leading to new treatments for alopecia areata.
research The ITGB6 gene: its role in experimental and clinical biology
The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
research Whiskers amiss, a new vibrissae and hair mutation near the Krt1 cluster on mouse Chromosome 11
A new mutation in mice causes crooked whiskers and messy hair.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
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 GLABROUS INFLORESCENCE STEMS3 binds to and activates RHD2 and RHD4 genes to promote root hair elongation in Arabidopsis
A protein called GIS3 is important for the growth of root hairs in Arabidopsis by controlling two genes with the help of certain growth signals.
research Polymorphism of keratin-associated protein (KAP) 7 gene and its association with wool traits in Rambouillet sheep
The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research The genetics of alopecia areata
Alopecia areata has a complex genetic basis that was not fully understood as of 2001.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research Commentary 2
Genetic factors play a major role in acne.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research Deletion analysis of AGD1 reveals domains crucial for its plasma membrane recruitment and function in root hair polarity
AGD1's PH domain is essential for its role in root hair growth and polarity.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
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 Correlation and regression analysis of the KRT27 and ELOVL4 genes in cashmere fineness and other production performances in Liaoning cashmere goats
Certain gene combinations improve cashmere quality and production in Liaoning goats.