research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
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510-540 / 1000+ resultsresearch A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
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 604 DNA dioxygenases TET regulate keratin gene expression and enhancer networks within lineage-specific gene loci during epidermal and hair follicle-specific keratinocyte differentiation
TET enzymes are important for skin and hair development by controlling gene activity in specific areas.
research A group of type I keratin genes on human chromosome 17: characterization and expression.
Only one K16 gene on chromosome 17 makes a functional keratin protein.
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 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Transcriptional regulation analysis and the potential transcription regulator site in the extended KAP6.1 promoter in sheep
research Correction to “MiR‐200c‐3p as a Novel Genetic Marker and Therapeutic Tool for Alopecia Areata”
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 Screening of Sheep Fibroblast Cell Line with the Spider Dragline Silk Protein Gene
Sheep cells were successfully modified to include a spider silk protein gene.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
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 Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Genetically null mice reveal a central role for epidermal growth factor receptor in the differentiation of the hair follicle and normal hair development.
EGFR is essential for normal hair development and follicle differentiation.
research The HPV16 oncogenes cause aberrant stem cell mobilization
HPV16 oncogenes disrupt the normal activity of hair follicle stem cells.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Mapping of cis-acting expression quantitative trait loci in human scalp hair follicles
Researchers identified genes in scalp hair follicles that may affect hair traits and hair loss.
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 The E211 G>A Androgen Receptor Polymorphism Is Associated with a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia
E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research Interaction between estrogens and androgen receptor genes microsatellites, prostate-specific antigen and androgen receptor expressions in breast cancer
Certain gene patterns in breast cancer are linked to how active hormone receptors are and could affect patient survival.
research Molecular Cloning and Expression Analysis of Prostaglandin E Receptor 2 Gene in Cashmere Goat (Capra hircus) Skin during Hair Follicle Development
The PTGER2 gene is highly active in Cashmere goat skin and its activity changes with the hair growth cycle.
research Oncogenic Kras induces spatiotemporally specific tissue deformation through converting pulsatile into sustained ERK activation
The Kras mutation changes normal cell signals, leading to disrupted tissue structure and potential cancer.
research Analysis Polymorphism of Androgen Receptor in Cases of Androgenetic Alopecia
Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.