research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
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120-150 / 1000+ results research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research GATA3 inhibits proliferation and induces expression of both early and late differentiation markers in keratinocytes of the human epidermis
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes
The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
research Skin-specific transgenic overexpression of ovine β-catenin in mice
Overexpressing ovine β-catenin in mice skin increases hair follicle density and growth.
research KRT72 wt Allele
KRT72 gene helps form hair.
research FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation
The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research 085 Autoantigen screening in C3H/HeJ mouse model of alopecia areata revealed high antigenicity of melanocyte-associated antigen epitopes
Melanocyte-associated antigens may play a key role in alopecia areata and could be targets for new treatments.
research DataSheet1.zip
GPC1 is important for hair growth by helping blood vessels form around hair follicles.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Deciphering gene regulatory programs in mouse embryonic skin through single-cell multiomics analysis
HT-scCAT-seq helps understand gene regulation in embryonic skin development.
research Wnt target gene Ascl4 is dispensable for skin appendage development
The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.
research Preclinical Pharmacology, Antitumor Activity, and Development of Pharmacodynamic Markers for the Novel, Potent AKT Inhibitor CCT128930
CCT128930 is a promising new drug that effectively targets and inhibits a cancer-related protein, showing potential for cancer treatment.
research Identification of the keratin-associated protein 13-3 (KAP13-3) gene in sheep
The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Identification of a preferred substrate peptide for transglutaminase 3 and detection of in situ activity in skin and hair follicles
The study found a specific peptide that helps detect TGase 3 activity in skin and hair follicles.
research Human epidermal transglutaminase. Preparation and properties.
The enzyme from human skin can cross-link proteins and needs calcium to work.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research A small multigene hydroxyproline-O-galactosyltransferase family functions in arabinogalactan-protein glycosylation, growth and development in Arabidopsis
Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
research Relationships between hair-follicle afferent axons and glycine-immunoreactive profiles in cat spinal dorsal horn
Aδ-LTMRs have complex synapses with glycine, while Aβ-LTMRs have simpler ones.
research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
research Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes
FTase and GGTase-I are essential for skin keratinocyte health.
research Construction and Activity Analysis of K14/K5 Promoter Vector Containing Luciferase Gene
The K14 promoter is more active in skin cells than the K5 promoter.
research ATP6AP1‐CDG: Follow‐up and female phenotype
ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.