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.
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600-630 / 1000+ resultsresearch Relevance of the Axis Spermidine/eIF5A for Plant Growth and Development
Spermidine is essential for plant growth and adaptation to stress.
research Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes
Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis
A specific gene change is linked to severe hair loss.
research Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
Mutations in the Sgk3 gene cause fuzzy hair in mice.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research “Arrow” sign: A rapid microscopic diagnosis of hair change associated with epidermal growth factor receptor inhibitors
A new method quickly detects hair changes from EGFR inhibitors using a microscope.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Generation of Cashmere Goats Carrying an EDAR Gene Mutant Using CRISPR-Cas9-Mediated Genome Editing
CRISPR-Cas9 can successfully edit genes in large mammals like Cashmere goats.
research KIF18B is a cell-type specific regulator of spindle orientation in the epidermis
KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research The pioneer factor SOX9 competes for epigenetic factors to switch stem cell fates
SOX9 helps determine stem cell roles by interacting with DNA and proteins that control gene activity.
research GATA3 inhibits proliferation and induces expression of both early and late differentiation markers in keratinocytes of the human epidermis
research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia
Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research EGF–FGF2 stimulates the proliferation and improves the neuronal commitment of mouse epidermal neural crest stem cells (EPI-NCSCs)
EGF–FGF2 helps mouse stem cells grow and become more like nerve cells.
research A 5'-upstream region of a bovine keratin 6 gene confers tissue-specific expression and hyperproliferation-related induction in transgenic mice.
A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research 131 Mutational landscape of extramammary Paget disease
The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
research NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease
The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research HR Gene Variants Identified in Mexican Patients with Alopecia Areata
A specific gene variant may increase the risk of developing Alopecia Areata.
research Epidermal Growth Factor as a Biologic Switch in Hair Growth Cycle
EGF controls hair growth by regulating hair follicles' growth phases.
research Expression ofSfrp2Is Increased in Catagen of Hair Follicles and Inhibits Keratinocyte Proliferation
Sfrp2 increases during hair follicle catagen phase and slows keratinocyte growth.
research Exploring differential gene expression and biomarker potential in systemic lupus erythematosus: a retrospective study
FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.