research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research 723 DNA dioxygenases Tet2/3 regulate gene promoter accessibility and three-dimensional chromatin topology in lineage-specific loci to control hair growth
Tet2 and Tet3 enzymes are essential for controlling hair growth by affecting DNA demethylation and gene expression in mice.
research A Tale of Two Haplotypes: The EDA2R/AR Intergenic Region is the Most Divergent Genomic Segment between Africans and East Asians in the Human Genome
The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
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 Ox40-Cre–mediated deletion of BRD4 reveals an unexpected phenotype of hair follicle stem cells in alopecia
Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
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 Data Sheet 1_A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism.docx
Researchers created an efficient method to extract DNA from marmoset hair, reducing blood chimerism.
research Alopecia Areata is associated with MICA and an extended HLA haplotype
Certain genes are linked to the risk of developing Alopecia Areata.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Forensic DNA Phenotyping: Male Pattern Baldness: Traditional Review
DNA markers can help predict male pattern baldness, useful in criminal and missing person cases.
research Office Diagnosis of Hair Shaft Defects
The document explains how to identify different hair problems using a microscope.
research Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
research INNOVATIVE THERAPIES IN REGENERATIVE MEDICINE AND TRANSPLANTATION
DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
research Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes (Hospitalization and Surgery)
Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
research ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation
A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
research Vitamin D Receptor Gene Polymorphism In Chronic Telogen Effluvium; A Case-Control Study
Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research The human promyelocytic leukemia protein is a tumor suppressor for murine skin carcinogenesis
The PML protein helps prevent skin cancer in mice.
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.
research 42761 The elusive BAP1 mutation in pediatric melanocytic tumors
BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
research Human melanocyte development and melanoma dedifferentiation at single cell resolution
Human melanocytes have unique traits that affect melanoma development and prognosis.
research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research A mouse with bad hair and poor taste
A defective gene causes hair loss and taste insensitivity in BTBR mice.
research Data from Synergistic Function of Smad4 and PTEN in Suppressing Forestomach Squamous Cell Carcinoma in the Mouse
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
research Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis
research Vitamin D Receptor gene polymorphisms taq-1 and cdx-1 in female pattern hair loss
Certain gene variations in the Vitamin D Receptor are linked to higher risk of female hair loss.
research Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans
Certain DNA variants can predict straight hair in Europeans but are not highly specific.