research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
Search
for
Sort by
Research
600-630 / 1000+ resultsresearch The heme-responsive PrrH sRNA regulatesPseudomonas aeruginosapyochelin gene expression
PrrH sRNA controls pyochelin gene expression in Pseudomonas aeruginosa based on heme levels.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Variation in the ovine keratin-associated protein 15-1 gene affects wool yield
Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
research Cloning of a Functional Vitamin D Receptor from the Lamprey (Petromyzon marinus), an Ancient Vertebrate Lacking a Calcified Skeleton and Teeth
Lampreys have a functional vitamin D receptor that may help detoxify harmful substances.
research Abstract 5561: 20(S)-Protopanaxadiol-aglycone downregulates full-length and ligand-independent splice variants of androgen receptor
20(S)-Protopanaxadiol-aglycone may help prevent and treat prostate cancer by reducing androgen receptor activity.
research The Function of LPR1 is Controlled by an Element in the Promoter and is Independent of SUMO E3 Ligase SIZ1 in Response to Low Pi Stress in Arabidopsis thaliana
LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
research Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Pegvaliase is recommended for treating adults with phenylketonuria.
research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Upregulation of interfollicular epidermal and hair infundibulum β-catenin expression in Gsdma3 mutant mice
Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
research Historical and Current Adenosine Receptor Agonists in Preclinical and Clinical Development
The document concludes that adenosine receptor agonists have potential for treating various conditions, but only a few are approved due to challenges like side effects and the need for selective activation.
research Intestinal Dysbiosis and Biotin Deprivation Induce Alopecia through Overgrowth of Lactobacillus murinus in Mice
An imbalanced gut and lack of biotin can cause hair loss in mice.
research Short-Chain Fatty Acids from Cutibacterium acnes Activate Both a Canonical and Epigenetic Inflammatory Response in Human Sebocytes
Short-chain fatty acids from *Cutibacterium acnes* cause skin inflammation, contributing to acne.
research Wnt Signaling and Aging-Related Heart Disorders
Wnt signaling may be linked to heart diseases in aging and could be a target for future treatments.
research miR-22 promotes stem cell traits via activating Wnt/β-catenin signaling in cutaneous squamous cell carcinoma
miR-22 helps skin cancer grow and spread by activating specific cell signals.
research Generalized calcinosis cutis associated with probable leptospirosis in a dog
A dog's skin calcification condition resolved without treatment after a bacterial infection.
research Alterations in transcriptome and antioxidant activity of naturally aged mice exposed to selenium-rich rice
Eating selenium-rich rice improved antioxidant activity and signs of aging in mice.
research AVALIAÇÃO DO USO DE TELAS DIGITAIS POR CRIANÇAS E ADOLESCENTES EM TEMPOS DE PANDEMIA
Children's screen time increased during the pandemic, causing various health issues.
research THE NARRATIVE REVIEW ON SIDDHA POLYHERBAL FORMULATION: GARUDAN KIZHANGU ENNAI
Garudan Kizhangu Ennai may effectively treat alopecia areata but needs more research to confirm its safety and effectiveness.
research DIFERENÇAS NA APRESENTAÇÃO E DIAGNÓSTICO DE TRANSTORNO DO ESPECTRO AUTISTA EM MENINOS E MENINAS: PERCEPÇÃO DOS PROFISSIONAIS DA SAÚDE
Girls with Autism Spectrum Disorder may show different symptoms than boys, leading to missed or delayed diagnoses.