research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
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720-750 / 1000+ results research Tβ4-overexpression based on the piggyBac transposon system in cashmere goats alters hair fiber characteristics
Overexpressing Tβ4 in cashmere goats improves hair fiber traits and increases cashmere yield.
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Table 1_Molecular mechanisms underlying cashmere quality differences between Jiangnan cashmere goats and Changthangi pashmina goats.xlsx
Differences in cashmere quality between goat breeds are linked to specific genes and pathways.
research Transgenic mice display hair loss and regrowth overexpressing mutant <i>Hr</i> gene
Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Melanoblasts' Proper Location and Timed Differentiation Depend on Notch/RBP-J Signaling in Postnatal Hair Follicles
Notch/RBP-J signaling is crucial for proper placement and timing of melanocyte development in hair follicles.
research Screening and Identification of LncRNAs Related to Villus Growth of Liaoning Cashmere Goats and Their Effects on Growth after FGF5 Treatment
Certain long non-coding RNAs in cashmere goats affect hair growth when treated with a specific growth factor.
research Elucidating the roles of three β-glucuronosyltransferases (GLCATs) acting on arabinogalactan-proteins using a CRISPR-Cas9 multiplexing approach in Arabidopsis
The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.
research The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
research HOXC8 initiates an ectopic mammary program by regulating Fgf10 and Tbx3 expression, and Wnt/β-catenin signaling
Hoxc8 gene helps start mammary gland development by controlling specific signals.
research Characterization of a new, inducible transgenic mouse model with GFP expression in melanocytes and their precursors
A new mouse model helps study melanocyte cells using GFP expression.
research Identification of Genes Related to Hair Follicle Cycle Development in Inner Mongolia Cashmere Goat by WGCNA
Researchers found genes linked to hair growth cycles in Inner Mongolia cashmere goats, which could help understand and treat hair loss.
research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
research Overexpression of Smad7 results in severe pathological alterations in multiple epithelial tissues
Too much Smad7 can cause serious changes in skin tissues, including problems with hair growth, thymus shrinkage, and eye development issues.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research 0480 Upadacitinib monotherapy for treatment of pyoderma gangrenosum: A case series
Upadacitinib effectively treats pyoderma gangrenosum.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Regulation of secondary hair follicle cycle in cashmere goats by miR-877-3p targeting IGFBP5 gene
miR-877-3p can improve cashmere quality by regulating hair growth in goats.
research Analysis of Sonic Hedgehog signalling pathway gene expression in Basal Cell Carcinoma and in GLII induced systems
GLI and EGF signalling affect Basal Cell Carcinoma development and could be therapeutic targets.
research Manipulation of outer root sheath cell survival perturbs the hair-growth cycle
Overexpression of certain genes can shorten hair by disrupting the hair-growth cycle.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research The International Journal of Cell Differentiation and Proliferation
research The deduced sequence of the novel protransglutaminase E (TGase3) of human and mouse
Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.