research 303 The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank
Rare genetic variants in 125 genes are linked to male-pattern hair loss.
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750-780 / 1000+ resultsresearch SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research The TNFRSF1B Connection: Implications for Androgenetic Alopecia Pathogenesis and Treatment
Targeting the TNFRSF1B gene may help treat hair loss.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Increased proliferation of epidermal gamma delta T cells and expression of the transmembrane protein, BST2, in Alopecia areata
BST2 protein and certain T cells increase in early alopecia areata.
research PRIDE syndrome with lumbosacral hypertrichosis
EGFR inhibitors can cause unusual localized hair growth.
research An unexpected role for keratin 10 end domains in susceptibility to skin cancer
Keratin 10 end domains may increase skin cancer risk by reducing cell death.
research Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research The VEGF +405 G>C 5' untranslated region polymorphism and risk of PCOS: a study in the South Indian Women
The VEGF +405G allele may increase the risk of PCOS in South Indian women.
research Thiopurine-induced Myelosuppression with Severe Sepsis in a Patient with Crohn's Disease: A Case Report
Testing for the NUDT 15 variant is crucial before starting azathioprine, especially in Asians.
research Proliferating trichilemmal cyst with histological malignant transformation: Identification of hair sheath keratins in the tumor.
A hair cyst can become cancerous, showing specific keratins from the hair sheath.
research Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?
mTOR may link different pathways in hair follicle tumor formation.
research Expression and Analysis of TBX3 Gene in the Skin from Three Locations on Dun Mongolian Bider Horse
TBX3 gene affects horse coat color, with higher expression in darker areas.
research Genome-wide expression profile analysis of 3D cultured dermal papilla cells from patients with androgenic alopecia
Hair loss in androgenic alopecia patients is linked to changes in certain genes that control cell growth and death.
research Ornithine decarboxylase expression in cutaneous papillomas in SENCAR mice is associated with altered expression of keratins 1 and 10.
High ODC and low K1 and K10 may indicate early skin tumors in mice.
research Peroxisome Proliferator Activated Receptors Gamma Serum levels and Gene Polymorphism in Frontal Fibrosing Alopecia: A Case Control Study
Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research Early skin seeding regulatory T cells modulate PPARγ-dependent skin pigmentation
Early regulatory T cells are crucial for normal skin pigmentation.
research Research Snippets
New hair regrowth model proposed, imiquimod found to kill skin cancer cells, T-cadherin loss linked to invasive skin cancer, no clear gene link to skin cancer after transplant, and study on children's hair loss shows male dominance and genetic ties.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research QS8: Analysis of the Whole Transcriptome in Breast Cancer Patients Undergoing Radiotherapy and Breast Reconstruction
Radiation therapy in breast cancer patients changes gene expression related to DNA damage, fibroblast growth, and hair follicle development, which could help improve treatment for radiation-induced fibrosis.
research The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Androgen receptor inhibits the hair follicle induction potential of dermal papilla cells by binding with Tcf4 at the A574 binding site
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Androgen Receptor Polymorphism-Dependent Variation in Prostate-Specific Antigen Concentrations of European Men
Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.