research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
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870-900 / 1000+ resultsresearch Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Alopecia Areata and malignancies: uncertainties clarified by a large-scale population-based study
Alopecia areata is linked to blood cancers, especially in older patients, but not to most solid cancers.
research POLYCYSTIC OVARIAN SYNDROME - A PROBLEM OF MODERN MEDICINE
PCOS is a major health issue affecting multiple hormone-producing organs.
research AN OVERVIEW ON POLYCYSTIC OVARIAN SYNDROME
PCOS is a hormonal disorder affecting many women, leading to symptoms like acne and irregular periods, and increasing the risk of diabetes and heart disease.
research Association between PITX2 polymorphism and androgenetic alopecia in the Indian population
Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
research The emerging roles of N6-methyladenosine (m6A) deregulation in polycystic ovary syndrome
m6A deregulation plays a key role in PCOS and could lead to new treatments.
research Author response: Sphingosine 1-phosphate-regulated transcriptomes in heterogenous arterial and lymphatic endothelium of the aorta
Sphingosine 1-phosphate affects inflammation and gene expression in different aorta cells.
research Effect of ethnicity on the clinical presentations of women with polycystic ovary syndrome: a 20-year retrospective cohort study
Ethnicity affects how polycystic ovary syndrome shows up in women, with white women having higher metabolic risks but less diabetes, and South Asian women showing more androgenic symptoms and being younger at presentation.
research Cloning of a putative keratin-associated protein cDNA expressed in various mouse tissues other than hair follicles
Keratin-associated proteins may have roles in various mouse tissues, not just hair.
research 057 Single cell RNA and TCR sequencing reveals hyperexpansion of T cell clones and novel regulatory mechanisms of CD8+ T cells in murine alopcecia areata skin and draining lymph nodes
CD8+ T cells expand significantly in alopecia areata, suggesting new treatment targets.
research 0977 Pathogenic hallmarks of primary lymphocyte-mediated scarring alopecia revealed by single nuclear and spatial multiomics
Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
research Genomic Regions Associated with Wool, Growth and Reproduction Traits in Uruguayan Merino Sheep
Certain genes influence wool, growth, and reproduction traits in Uruguayan Merino sheep.
research Characterisation, genomic organisation, expression and function of the mEphA1 receptor Tyrosine Kinase
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
research Psoriasis and Related Disorders
Psoriasis is a common, genetically influenced skin disease worsened by stress and lifestyle, but targeted treatments are promising.
research Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA
Altering SSAT affects fat metabolism and body fat in mice.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research PCOS: update and diagnostic approach
The document concludes that more research is needed to fully understand the causes of PCOS.
research 237 Unveiling Skin Cancers Pathophysiology via the Modeling of Xeroderma Pigmentosum Disease Modeling Using CRISPR-Cas9 Technology
Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
research Genome-wide DNA methylation and transcriptome analyses reveal the key gene for wool type variation in sheep
The SOSTDC1 gene is crucial for determining sheep wool type.
research Translation into Portuguese language (Brazil), transcultural adaptation and validation of the quality of life questionnaire in female pattern hair loss (WAA-QoL-BP)
Portuguese WAA-QoL questionnaire validated; FPHL severity, schooling, and phototypes affect patients' quality of life.
research Analogs of human genetic skin disease in domesticated animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
research Comprehensive Genomic Profiling of Cutaneous Adnexal Carcinomas: A Genomic Landscape Study
Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
research Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome
Genetic risk for PCOS can affect children's growth, metabolism, and development from early life into adulthood.
research In silico analysis of gene expression data from bald frontal and haired occipital scalp to identify candidate genes in male androgenetic alopecia
Found 32 genes linked to male baldness, affecting hair growth and stress-related pathways.
research Integrated analysis of transcriptomes and proteomes reveals the molecular mechanisms underlying the development of Dorper sheep hair follicles
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research Cutaneous xanthomas in homozygous familial hypercholesterolemia: A 12-year follow-up
Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
research Multiphoton microscopic imaging of in vivo hair mouse skin based on two‐photon excited fluorescence and second harmonic generation
Multiphoton microscopy effectively images mouse skin layers and structures.