research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
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300-330 / 1000+ resultsresearch Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research 865 Conditional ablation of JAK-STAT5 signaling induces anagen hair growth
Blocking JAK-STAT5 signaling in mice leads to hair growth.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
research CRISPR/Cas9-mediated Disruption of Fibroblast Growth Factor 5 in Rabbits Results in a Systemic Long Hair Phenotype by Prolonging Anagen
Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research Hoxc13 polyglycine repeat gain-of-function drives mammalian integument evolution by altering targeted genes and interactions
The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
research Hedgehog and Gli Signaling in Embryonic Mammary Gland Development
Hedgehog signaling is crucial for mammary gland development over hair follicles.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Identification and dissection of an enhancer controlling epithelial gene expression in skin
A specific DNA region controls skin cell gene expression by working with certain proteins.
research A genome‐wide association study identified a genetic variant associated with hair thinning in Japanese women
A genetic variant linked to hair thinning in Japanese women was found.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Coregulation of Genetic Programs by the Transcription Factors NFIB and STAT5
NFIB and STAT5 work together to control specific genetic programs in cells.
research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research Increased expression of Ectodysplasin A2 Receptor EDA2R is the most remarkable and ubiquitous aging-related transcriptional hallmark
The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
research LHX2 is a direct NF-κB target gene that promotes primary hair follicle placode down-growth
LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Genomic Characterization of the Human Type I Cuticular Hair Keratin hHa2 and Identification of an Adjacent Novel Type I Hair Keratin Gene hHa5
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research The role of AUTS2 in neurodevelopment and human evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research Dysregulation of Grainyhead-like 3 expression causes widespread developmental defects
Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
research What’s new in Birt–Hogg–Dubé syndrome?
New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Analysis of Sequences Controlling Tissue-Specific and Hyperproliferation-Related Keratin 6 Gene Expression in Transgenic Mice
K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research 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 LHX2: a transcription factor in development, homeostasis, repair, and disease
LHX2 is crucial for development, tissue repair, and preventing diseases.