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.
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960-990 / 1000+ resultsresearch Protein kinase Cepsilon is linked to 12-O-tetradecanoylphorbol-13-acetate-induced tumor necrosis factor-alpha ectodomain shedding and the development of metastatic squamous cell carcinoma in protein kinase Cepsilon transgenic mice.
Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
research Multiple roles for activated LEF/TCF transcription complexes during hair follicle development and differentiation
Activated LEF/TCF complexes are crucial for hair development and cycling.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
research Common genetic hair shaft abnormalities may be visualized by light and electron microscope
Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
research Paracrine TGF-β Signaling Counterbalances BMP-Mediated Repression in Hair Follicle Stem Cell Activation
TGF-β2 helps activate hair follicle stem cells by counteracting BMP signals.
research 2,3,7,8‐Tetrachlorodibenzo‐p‐dioxin causes an increase in protein kinases growth hepatic associated with epidermal factor receptor in the plasma membrane
TCDD reduces EGF receptors in the liver, affecting growth and development.
research In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy
Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
research MiR-325-3p functions as a suppressor miRNA and inhibits the proliferation and metastasis of glioma through targeting FOXM1
miR-325-3p can slow down brain tumor growth by targeting FOXM1.
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 Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research Trichothiodystrophy without associated neuroectodermal features in two siblings
Two sisters had a rare hair condition without other usual symptoms.
research A polymorphism in the matrix metalloproteinase-1 gene promoter is associated with the presence of polycystic ovary syndrome in Caucasian women
A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
research Investigation the role of SIRT3, SIRT7, NFATC1, and PDL-1 genes in Androgenetic Alopecia
SIRT3 and SIRT7 decrease, while NFATC1 and PDL-1 increase in Androgenetic Alopecia.
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 Overexpression of parathyroid hormone-related protein in the skin of transgenic mice interferes with hair follicle development.
Too much parathyroid hormone-related protein in skin disrupts hair growth in mice.
research Genetic disorders of keratin: are scarring alopecias a sub-set?
Keratin mutations may cause scarring alopecia by damaging hair structure.
research Clinical Snippets
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research DNA dioxygenases Tet2/3 regulate gene promoter accessibility and chromatin topology in lineage-specific loci to control epithelial differentiation
The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
research Characterisation of Ovine KRTAP19-3 and Its Impact on Wool Traits in Chinese Tan Sheep
Specific gene variants affect wool traits in Chinese Tan sheep.
research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research An mTurq2-Col4a1 mouse model allows for live visualization of mammalian basement membrane development
The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
research Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg–like Cells, and Common EGFR Somatic Mutations
Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.
research Mrp4, A New Mitogen-Regulated Protein/Proliferin Gene; Unique in this Gene Family for its Expression in the Adult Mouse Tail and Ear1
A new gene, mrp4, is found in mice and may play a unique role in hair follicle development in tails and ears.
research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
Hair follicles can be used to study gene mutations in Stargardt disease.
research Abstract 18: Targeted epidermal ablation of EGFR causes local and systemic inflammation
Removing EGFR in skin causes inflammation and abnormal hair growth.
research Cyclic hair-loss and regrowth in transgenic mice overexpressing an intermediate filament gene.
Mice with extra sheep genes had hair that fell out and regrew in cycles.
research Impaired Notch‐MKP ‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.