research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
Search
for
Sort by
Research
840-870 / 1000+ results
research A genome‐wide association study identified a genetic variant associated with hair thinning in Japanese women
A genetic variant linked to hair thinning in Japanese women was found.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research The silver locus product (Silv/gp100/Pmel17) as a new tool for the analysis of melanosome transfer in human melanocyte–keratinocyte co‐culture
The new assay can track and measure melanosome transfer between skin cells, confirming filopodia's role in this process.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research P-055 MONOZYGOTIC TRANSGENDER MALE TWINS: A CASE REPORT HIGHLIGHTING GENETIC CONCORDANCE IN GENDER DYSPHORIA
Genetics may play a significant role in gender dysphoria.
research Increased frequency of heterozygoshy for the 21 hydroxylase deficiency among hersute females
Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
research 778 Designing and utilizing a c-Rel specific bioassay in drug repurposing screen for HNSCC
A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
research Efficient integration of human skin single-cell RNA sequencing data
A comprehensive human skin cell atlas was created to better understand skin biology and disease.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Expression of retinoid-X receptors (-Æ,-a,-a) and retinoic acid receptors (-Æ,-a,-a) in normal human skin: an immunohistological evaluation
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
research Twenty-Five and Up (25Up) Study: A New Wave of the Brisbane Longitudinal Twin Study
The 25Up study collected extensive data on mental disorders and related factors in Australian twins and siblings to investigate the genetics of psychiatric illnesses.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research The occurrence of the ε-(γ-glutamyl)lysine cross-link in the medulla of hair and quill
research Transcriptome sequencing reveals the key genes associated with hair follicle development in Qianhua Mutton Merino
Key genes like KRT27 and IGF-2 are crucial for hair follicle development in Qianhua Mutton Merino sheep.
research The chemokine SDF-1/CXCL12 regulates the migration of melanocyte progenitors in mouse hair follicles
SDF-1/CXCL12 and its receptor CXCR4 are crucial for melanocyte movement in mouse hair follicles.
research Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report
Researchers found a gene mutation responsible for a rare hair loss condition.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles
HoxC genes are crucial for normal hair and nail development.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Vitamin D Receptor Gene Polymorphism In Chronic Telogen Effluvium; A Case-Control Study
Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.
research Increased expression of Ectodysplasin A2 Receptor EDA2R is the most remarkable and ubiquitous aging-related transcriptional hallmark
The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
research GBP1 as a machine learning-prioritized biomarker and therapeutic target for epstein-barr virus-induced clear cell renal cell carcinoma: multi-omics causal validation
GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research INVESTIGATIONS INTO THE ROLE OF THE X-LINKED EPIGENETIC REGULATOR UTX (KDM6A) IN SELF-RENEWING STRATIFYING EPITHELIA
UTX is important for skin health and its loss can lead to skin issues, especially in females.
research Transcriptome meta-analysis reveals the hair genetic rules in six animal breeds and genes associated with wool fineness
Different sheep breeds share similar genetic factors affecting wool fineness.
research 1123 COPPER LOADING (CuL) STUDIES IN BRINDLED (Br) MOUSE HEMIZYGOTES AND HETEROZYGOTES
Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.