research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
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510-540 / 1000+ results research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Highly Upregulated Lhx2 in the Foxn1−/− Nude Mouse Phenotype Reflects a Dysregulated and Expanded Epidermal Stem Cell Niche
The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Ectopic Expression of the nude Gene Induces Hyperproliferation and Defects in Differentiation: Implications for the Self-Renewal of Cutaneous Epithelia
The nude gene causes skin cell overgrowth and improper development, leading to hair and urinary issues.
research Identification of Potential Hub Genes in Alopecia Areata
CD8A and FOXD2-AS1 may be key for diagnosing and treating alopecia areata.
research The relevance of collagen XVII expression in epidermal differentiation and proliferation
Collagen XVII is crucial for skin cell growth and nail health.
research The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata
The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Type II Epithelial Keratin 6hf (K6hf) Is Expressed in the Companion Layer, Matrix, and Medulla in Anagen-Stage Hair Follicles
K6hf is found in specific parts of hair follicles, nails, and tongue, and is linked to hair growth and structure.
research Molecular mechanisms underlying cashmere quality differences between Jiangnan cashmere goats and Changthangi pashmina goats
Cashmere quality differences are due to gene expression variations affecting hair development and adaptation to cold.
research 1329 CENPV is a novel CYLD-interacting molecule regulating ciliary acetylated tubulin
CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Transcriptome-based Selection and Validation of Optimal House-keeping Genes for Skin Research in Goats (Capra hircus)
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
research Chromosomal localization of acidic and basic keratin genes of the domestic dog
Acidic keratin genes are on CFA9 and basic keratin genes are on CFA27 in dogs.
research The first broad replication study of SNPs and a pilot genome‐wide association study for androgenetic alopecia in Asian populations
Two specific genetic markers increase the risk of hair loss in Asian populations.
research CircERCC6 Positively Regulates the Induced Activation of SHF Stem Cells in Cashmere Goats via the miR-412-3p/BNC2 Axis in an m6A-Dependent Manner
Circular RNA ERCC6 helps activate stem cells important for cashmere goat hair growth by interacting with specific molecules in an m6A modification-dependent way.
research One Transgene: Two Outcomes
Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research Abstract 2205: KRTAP 2-3 is a novel potential biomarker of cells in the polyaneuploid cancer cell (PACC) state to predict cancer recurrence
KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
research Bioinformatics analysis and verification of m6A related genes based on the construction of keloid diagnostic model
IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
research The fundamentals of WNT10A
WNT10A is important for tissue development and linked to various human disorders.
research Cytokeratin 19 expression in usual cutaneous carcinomas
CK 19 expression is higher in more severe skin cancers.
research Gene expression profiling analysis reveals fur development in rex rabbits (Oryctolagus cuniculus)
Gene expression affects fur development in rex rabbits.
research Gene profile analysis of colorectal cancer cell lines by cDNA macroarray
Colorectal cancer's ability to spread is due to changes in many genes, not just one.
research Identification and single-cell analysis of prognostic genes related to mitochondrial and neutrophil extracellular traps in bladder cancer
Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.
research K31 as a novel marker for clear secretory cells in human eccrine sweat glands
K31 can identify clear secretory cells in human sweat glands.