research A Kindred With Mutant IKAROS and Autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
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930-960 / 1000+ resultsresearch Hereditary Vitamin D-Resistant Rickets (HVDRR) Owing to a Heterozygous Mutation in the Vitamin D Receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research P53-Dependent Transcriptional Regulation of EDA2R and Its Involvement in Chemotherapy-Induced Hair Loss
The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.
research Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism
People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
research Expression and Function of Nuclear Receptor Co-Activator 4: Evidence of a Potential Role Independent of Co-Activator Activity
NcoA4 may have roles beyond helping control gene activity, possibly affecting cell behavior and stability.
research Mutations in Sterol O-Acyltransferase 1 (SOAT1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research Alopecia Areata: Gene Expression in Skin Samples from Patients
Alopecia areata involves immune response and gene changes affecting hair loss.
research Thymic Mesenchymal Cells Have a Distinct Transcriptomic Profile
Thymic mesenchymal cells have unique gene expression that supports their specific functions in the thymus.
research Interleukin-6 Null Mice Paradoxically Display Increased STAT3 Activity and Wound-Induced Hair Neogenesis
Mice without the IL-6 gene had more hair growth after injury due to higher activity of a related protein, Stat3.
research A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research The Intragenic mRNA-microRNA Regulatory Network During Telogen-Anagen Hair Follicle Transition in the Cashmere Goat
The research found that a complex gene network, controlled by microRNAs, is important for hair growth in cashmere goats.
research Adam10 Haploinsufficiency Causes Freckle-Like Macules in Hairless Mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research Demethylation of ITGAV Accelerates Osteogenic Differentiation in a Blast-Induced Heterotopic Ossification In Vitro Cell Culture Model
Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research 14-3-3σ Is Required for Club Hair Retention
The 14-3-3σ gene is essential for preventing hair loss.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome: A Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Narrowband UVB Treatment Induces Expression of WNT7B, WNT10B, and TCF7L2 in Psoriasis Skin
Narrowband UVB treatment increases certain gene expressions in psoriasis skin and improves symptoms.
research Expression of Apoptosis-Related Genes in the Mouse Skin During the First Postnatal Catagen Stage, Focused on Localization of Bnip3L and Caspase-12
The research found changes in gene expression related to cell death in mouse skin that help understand hair follicle development and skin health.
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 Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Impact of One-Week Administration of Dihydrotestosterone in Rat Anterior Pituitary Gland
Dihydrotestosterone changes some hormone-related gene expressions in rat pituitary glands but doesn't affect the estrous cycle.
research A New Start: Investigating The Role Of The Transcription Factor PDF2 In Arabidopsis
PDF2 senses specific lipids and regulates root growth and gene expression in Arabidopsis.
research ADAM17 Variant Causes Hair Loss via Ubiquitin Ligase TRIM47 Mediated Degradation
A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
research Novel Variant in WNT10A Caused Short Anagen Hair Syndrome in a Chinese Pedigree
A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
research Dynamics and Epigenetics of the Epidermal Differentiation Complex
Epigenetic mechanisms control skin development by regulating gene expression.