research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
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research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
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.
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 Characterisation of Four New Genes in the Ovine KAP19 Family
Four new genes related to sheep wool were discovered, showing genetic diversity.
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 The PCOS Phenotypes in Unselected Populations (P-PUP) study: participant clinical features and data harmonization on analysis of individual participant data
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Deletion of an Enhancer in FGF5 is Associated With Ectopic Expression in Goat Hair Follicles and the Cashmere Growth Phenotype
A genetic variant in goats is linked to cashmere growth.
research Gender Specificity of a Genetic Variant of Androgen Receptor and Risk of Coronary Artery Disease
A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
research Keratinocyte Cytokine Networks Associated with Human Melanocytic Nevus Development
Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.
research Protein Kinase C Epsilon Signals Ultraviolet Light‐induced Cutaneous Damage and Development of Squamous Cell Carcinoma Possibly Through Induction of Specific Cytokines in a Paracrine Mechanism¶
Protein kinase C epsilon may promote skin cancer development after UV exposure by affecting nearby cells.
research Primary Generalized Glucocorticoid Resistance and Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Characterisation of an Ovine Keratin Associated Protein (KAP) Gene, Which Would Produce a Protein Rich in Glycine and Tyrosine, but Lacking in Cysteine
A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
research Integrative analysis of Iso-Seq and RNA-seq data reveals transcriptome complexity and differential isoform in skin tissues of different hair length Yak
Different genes affect hair length in yaks.
research Cyproterone acetate and risk of meningioma: a nationwide cohort study
Taking high doses of Cyproterone acetate significantly increases the risk of meningioma in females.
research Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research A Study on CAG Repeat Polymorphisms of the Androgen Receptor in Korean Androgenetic Alopecia – Preliminary Report –
CAG repeat numbers in the AR gene likely don't affect hair loss in Korean men.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research MYC Protooncogenes of Wool and Hair Growtha
MYC protooncogenes may be important for hair growth, but more research is needed.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research The long and the short of it: evidence that FGF5 is a major determinant of canine ‘hair’‐itability
The FGF5 gene determines hair length in dogs.
research C/EBPα and C/EBPβ Are Required for Sebocyte Differentiation and Stratified Squamous Differentiation in Adult Mouse Skin
C/EBPalpha and C/EBPbeta are crucial for normal skin and oil gland cell development in adult mice.
research Two Calcium Sensor-Activated Kinases Function in Root Hair Growth
CIPK13 and CIPK18 genes are crucial for root hair growth in plants.
research Characterization of a First Domain of Human High Glycine-Tyrosine and High Sulfur Keratin-associated Protein (KAP) Genes on Chromosome 21q22.1
Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
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.