research Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma
A woman's mature cystic teratoma caused her virilization by producing testosterone.
Search
for
Sort by
Research
960-990 / 1000+ results 
research Obesity and peri-implantation endometrium
Obesity negatively affects the endometrium, leading to higher miscarriage risk and impaired cell function.
research Monilethrix unveiled by initial androgenetic alopecia.
An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
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.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Hair cross-sectioning in uncombable hair syndrome: An easy tool for complex diagnosis
The document suggests finding a simpler, cheaper way to diagnose Uncombable Hair Syndrome.
research Venus trap in the mouse embryo reveals distinct molecular dynamics underlying specification of first embryonic lineages
Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
research Adam10 haploinsufficiency causes freckle-like macules in Hairless mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Genotypic and Phenotypic Study of PDCD4 gene Concerning micro RNA-21 and micro RNA-449b Polymorphism in Breast Cancer
PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research An unusual case of quadruple polyorchidism in a human cadaver mimicking bilateral lipoma
A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Two parietal cephaloceles in a female neonate
A baby girl had two brain-related growths removed and is developing normally.
research Murine skin-derived multipotent papillary dermal fibroblast progenitors show germline potential in vitro
Mouse skin cells can become sperm-like cells in the lab.
research Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing.
Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
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 CXCR3 Blockade Inhibits T Cell Migration into the Skin and Prevents Development of Alopecia Areata
Blocking the CXCR3 receptor reduces T cell accumulation in the skin and prevents hair loss in mice.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research Identification of an Intronic Regulatory Element Necessary for Tissue-Specific Expression of Foxn1 in Thymic Epithelial Cells
A specific DNA region is crucial for Foxn1 gene expression in thymus cells but not in hair follicles.
research Preparation of Water Soluble Wool Keratin and Its Application for Human Hair
Water-soluble wool keratin can protect human hair from damage during treatments.
research Linking allergy to mercury to HLA and burning mouth syndrome
Mercury allergy linked to specific genes may contribute to burning mouth syndrome, and silicon might play a role in maintaining healthy hair.
research Serum Preptin and Amylin Levels with Respect to Body Mass Index in Polycystic Ovary Syndrome Patients
Women with PCOS have lower amylin levels, which are not related to their body weight.
research Isomorphic and isotopic phenomenon occurring simultaneously in a case of granuloma annulare
A patient with granuloma annulare experienced both isotopic and isomorphic responses, with skin lesions responding to steroids but relapsing after stopping treatment.
research Repair of damaged hair protein fiber by jointly using transglutaminase and keratin
Using an enzyme and keratin treatment can significantly repair and strengthen damaged hair.
research 0915 Sleep in Rheumatoid Arthritis: A Systematic Review and Meta-analysis of Objective Sleep Parameters
People with rheumatoid arthritis have poorer sleep quality than healthy individuals.
research Retail Insights ‐ Branding
The document concludes that understanding consumer-brand relationships is key for marketing and that perceived quality helps national brands maintain higher prices than store brands.