research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
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660-690 / 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 オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
research Human T‐lymphotropic virus 1 (HTLV‐1)‐associated lichenoid dermatitis induced by CD8+ T cells in HTLV‐1 carrier, HTLV‐1‐associated myelopathy/tropical spastic paraparesis and adult T‐cell leukemia/lymphoma
HTLV-1-associated lichenoid dermatitis (HALD) is linked to an immune response against HTLV-1-infected cells.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research Abstract PS1-01-19: Exploratory Study on the Efficacy and Safety of Combined Scalp Cooling and HairRepro MEDIα for Chemotherapy-Induced Alopecia in Japanese Breast Cancer Patients
The combined treatment helped prevent hair loss and promoted full hair regrowth in breast cancer patients after chemotherapy.
research Deletion of adipocyte Sine Oculis Homeobox Homolog 1 prevents lipolysis and attenuates skin fibrosis
Removing SIX1 in fat cells reduces skin fibrosis.
research Scalp cooling therapy for chemotherapy-induced hair loss in Asian patients with breast or gynecological cancers – a tertiary institution experience
Scalp cooling therapy helps preserve hair during chemotherapy for most patients.
research Overexpression of human keratin 16 produces a distinct skin phenotype in transgenic mouse skin
High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.
research Identification of drug-specific public TCR driving severe cutaneous adverse reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Enhanced viability and neural differential potential in poor post-thaw hADSCs by agarose multi-well dishes and spheroid culture
Spheroid culture in agarose dishes improves survival and nerve cell growth in thawed human fat-derived stem cells.
research Expression of Keratin 75 (K6hf) in Oral Squamous Cell Carcinoma
Keratin 75 might be important in oral cancer progression.
research [Chemotherapy for advanced non-Hodgkin's lymphoma with CVP therapy].
CVP therapy showed moderate success in treating advanced non-Hodgkin's lymphoma, but more intensive treatment is needed for better outcomes.
research Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
research Anti-ageing effect of a lactococcal strain: analysis using senescence-accelerated mice
Lactococcus lactis strain H61 may reduce some ageing symptoms.
research Hair: more than just an appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Hair Growth Promoting Effect of Hottuynia cordata Extract in Cultured Human Hair Follicle Dermal Papilla Cells
Houttuynia cordata extract may help hair grow by improving cell survival and increasing cell growth.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research DEVELOPING AND VALIDATING AN HPLC METHOD TO QUANTIFY SIMULTANEOUSLY DUTASTERIDE AND THEIR RELATED MOLECULES (DUTASTERIDE ACID, 2,5 BIS- (TRI FLUORO METHYL)-ANILINE AND DUTASTERIDE 17 α-EPIMER) IN CAPSULES
A reliable method was created to measure dutasteride and related molecules in capsules.
research P-13 Some biomechanical properties of human hair keratin (HHK) artificial tendon
research Permanent diffuse alopecia after haematopoietic stem cell transplantation in childhood
Some children who had stem cell transplants developed permanent hair loss, especially when treated with a drug called busulphan.
research A Novel Human Type II Cytokeratin, K6hf, Specifically Expressed in the Companion Layer of the Hair Follicle
K6hf is a unique protein found only in a specific layer of hair follicles.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Double-wavelength laser scanning microphotometer (DWLSM) for in-vitro hair shaft and surrounding tissue imaging
The DWLSM provides detailed imaging of hair shafts and follicles with high accuracy.
research Potency of a novel saw palmetto ethanol extract, SPET-085, for inhibition of 5α-reductase II
SPET-085 effectively inhibits an enzyme linked to prostate issues, similar to finasteride.