research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
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research Inhibition of the pro-oxidant effects of benoxaprofen on poiymorpbonuclear leucocytes by retinol acetate in vitro
Retinol acetate can reduce the harmful effects of the drug benoxaprofen on white blood cells.
research A review of hyperandrogenism state in polycystic ovarian syndrome
Polycystic ovary syndrome causes high male hormone levels, leading to symptoms like excess hair, acne, and fertility problems.
research Genomic Portraiture: The Science and Ethics of DNA Phenotyping in Identity Prediction
DNA phenotyping can predict physical traits like eye, hair, and skin color, improving forensic investigations.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia
Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
research To study on nutritional status in suffering from polycystic ovary syndrome (PCOS)
PCOS is linked to metabolic issues and infertility, needing more research.
research Localisation of members of the notch system and the differentiation of vibrissa hair follicles: Receptors, ligands, and fringe modulators
Notch-related genes play a key role in the development and cycling of hair follicles.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Hypoxia Enhances Differentiation of Hair Follicle-Associated-Pluripotent (HAP) Stem Cells to Cardiac-Muscle Cells
Low oxygen levels help hair follicle stem cells turn into heart muscle cells faster.
research Case Report: 8 years old boy with neurofibromatosis type one and Alopecia from KING ABDULAZIZ MEDICAL CITY OF THE NATIONAL GUARD. Saudi Arabia
An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
A study on a patient with IFAP syndrome, characterized by ichthyosis, alopecia, and photophobia, identified a hemizygous intronic variant in the MBTPS2 gene. This variant, previously known to cause a 20-base skipping in exon 7, was further investigated using long-read RNA sequencing. The analysis revealed additional skipping of exons 6 and 7 and a significant reduction in normal transcript expression compared to healthy skin. This highlights the utility of long-read RNA sequencing in identifying diverse transcript isoforms and understanding the impact of splice-altering variants.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research A New Role of Non-Sex Hormone in the Pathogenesis of Female Pattern Hair Loss
Elevated luteinizing hormone contributes to female-pattern hair loss, and blocking certain channels may help prevent it.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research Expression patterns of the glial cell line–derived neurotrophic factor, neurturin, their cognate receptors GFRα-1, GFRα-2, and a common signal transduction element c-Ret in the human skin hair follicles
Certain proteins and their receptors are more active during the growth phase of human hair and could be targeted to treat hair disorders.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Unilateral keratosis pilaris atrophicans faciei mimicking follicular mucinosis
A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
research Cutaneous Metabolism of Vitamin B-6
An enzyme other than TNAP might be responsible for vitamin B-6 metabolism in the skin.
research Faculty Opinions recommendation of Identification of functional patterns of androgenetic alopecia using transcriptome profiling in distinct locations of hair follicles.
research Faculty Opinions recommendation of Female pattern hair loss, sebum excretion and the end-organ response to androgens.
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 Follicular Fluid: A Powerful Tool for the Understanding and Diagnosis of Polycystic Ovary Syndrome
Analyzing follicular fluid can help predict and improve outcomes for women with PCOS undergoing fertility treatments.
research Novel 5α-Reductase Inhibitors: Synthesis, Structure−Activity Studies, and Pharmacokinetic Profile of Phenoxybenzoylphenyl Acetic Acids
A brominated phenoxy compound effectively inhibits a human enzyme and shows potential for clinical use.
research Progranulin, a secreted tumorigenesis and dementia-related factor, regulates mouse hair growth
Progranulin overexpression leads to shorter, thinner hair and increased cell death in mouse hair follicles.
research rPanglaoDB: an R package to download and merge labeled single-cell RNA-seq data from the PanglaoDB database
rPanglaoDB helps study rare cell types by merging RNA data, confirming fibrocytes' role in healing.
research 518 Nutrient and stress sensing as novel physiological regulator of human hair pigmentation and greying: Role of mTORC1 activity
Blocking mTORC1 activity could increase hair pigmentation and potentially reverse greying.
research Functionally enhanced placenta-derived mesenchymal stem cells inhibit adipogenesis in orbital fibroblasts with Graves’ ophthalmopathy
Enhanced stem cells from the placenta can reduce fat buildup in eye tissue for Graves' disease.
research 899 HIF1A stabilisation in the ORS of human hair follicles promotes aerobic glycolysis and synthesis of angiogenic factors
Stabilizing HIF1A in hair follicles may boost hair growth by enhancing energy production and blood vessel formation.
research [Proliferation behavior of the anagen hair bulb in androgenetic alopecia before and after local administration of 17 alpha- propylmesterolone–DNA flow cytophotometry studies].
Topical 17 alpha-propylmesterolone increases hair cell growth in androgenetic alopecia.