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.
Search
for
Sort by
Research
870-900 / 1000+ results 
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 Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Regulation of cashmere fineness traits by noncoding RNA in Jiangnan cashmere goats
Noncoding RNAs help determine cashmere quality in goats.
research Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
research Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice
Hair loss in certain mice is linked to changes in keratin-related genes.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms
Genetic factors influence growth and brain development in children.
research Development and progression of alopecia in the vitamin D receptor null mouse
Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Targeting cardiac hypertrophy through a nuclear co‐repressor
Targeting NCoR1 can help treat heart enlargement and dysfunction.
research 1392 Dkk4 regulates Wnt-dependent hair formation and pattern
Dkk4 protein helps control how hair grows and its arrangement.
research LncRNA NEAT1 and miRNA 101 as potential diagnostic biomarkers in patients with alopecia areata
research 574 A deep learning classifier for the analysis of tiger tail banding in trichothiodystrophy
A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
research Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research 1431 Skin aging and hair follicle stem cell dysfunction caused by T cells with defective mitochondrial metabolism
Defective T cell metabolism can cause early skin aging and poor hair follicle stem cell function.
research Tetrathiomolybdate Decreases the Expression of Alkaline Phosphatase in Dermal Papilla Cells by Increasing Mitochondrial ROS Production
Tetrathiomolybdate reduces hair growth marker in skin cells by boosting harmful oxygen molecules, but effects can be reversed.
research 862 Defining the molecular signature of the hair follicle dermal sheath and its functional requirement for hair cycle progression during catagen
The hair follicle dermal sheath is essential for hair shedding and needs to communicate with the outer root sheath for normal hair growth cycles.
research FOXN 1 Duplication and Congenital Hypertrichosis
FOXN1 duplication can cause excessive hair growth.
research Mechanism of action of NLRP3 protein macromolecule based on electrochemical sensors in the treatment of alopecia areata in mice: The role of Ritlecitinib in AA mice through NLRP3
research 안드로겐 탈모증 환자에서 HDMHG0401-10의 탈모방지, 양모 효과 및 안전성 평가를 위한 임상시험
research 1103 Derinat extends hair cycle at anagen phase by decreasing the level of TRPCs-mediated intracellular ROS accumulation in skin
Derinat helps extend hair growth by reducing harmful molecules in skin cells.
research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research The Molecular Revolution in Cutaneous Biology: Noncoding RNAs: New Molecular Players in Dermatology and Cutaneous Biology
Non-coding RNAs are crucial for skin development and health.
research The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X
Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Clinical study of twenty-nail dystrophy in Korea
The Korean study found that twenty-nail dystrophy mainly affects adults, more often women, and has five distinct types with different clinical progressions.
research Editor's evaluation: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.