research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
Search
for
Sort by
Research
150-180 / 1000+ results research Table 1_Evaluation of the efficacy and treatment-emergent adverse events of deuruxolitinib for moderate to severe alopecia areata: a dose-ranging meta-analysis of 1,372 randomized patients.docx
Deuruxolitinib improves hair regrowth in alopecia areata but needs more safety research.
research Alisertib is active as single agent in recurrent atypical teratoid rhabdoid tumors in 4 children
Alisertib was found to be an effective and tolerable treatment for children with recurrent brain tumors.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Targeted expression of spermidine/spermine N1-acetyltransferase increases susceptibility to chemically induced skin carcinogenesis
Increasing SSAT makes skin more prone to cancer.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
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 The expression of the gene asebia in the laboratory mouse: 3. Sebaceous glands
Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Alkyl shikimates promote proliferation of human dermal fibroblasts and exhibit structure–activity relationships
Shorter alkyl shikimates boost skin cell growth, while longer ones can be harmful.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Salivary gland function in persons with ectodermal dysplasias
People with ectodermal dysplasias often have reduced saliva production and should get saliva tests.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
research Steroid 5α-reductases and 3α-hydroxysteroid dehydrogenases: key enzymes in androgen metabolism
Key enzymes control androgen levels, affecting hormone activity and potential treatments.
research Introduction to this second series of Biometals webinars, The biology of mammalian multi-copper ferroxidases, Arsenic antibiotics: old and new
Some bacteria use arsenic compounds as antibiotics, and others have evolved resistance; a particular arsenic-based compound shows potential as a new antimalarial treatment.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Drug points: Remission of alopecia universalis during sulphasalazine treatment for rheumatoid arthritis
A woman's hair grew back while she was taking sulphasalazine for arthritis.
research Evaluation of Serum Paraoxonase, Arylesterase, Prolidase Activities and Oxidative Stress in Patients with Alopecia Areata
People with Alopecia Areata have higher oxidative stress and different enzyme activities compared to healthy individuals.
research Generation of comparative pharmacophoric model for steroidal 5α-reductase I and II inhibitors: A 3D-QSAR study on 6-azasteroids
The study created a model to help design new inhibitors for steroidal 5α-reductase enzymes.
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research Hair follicle sulfotransferase activity and effectiveness of oral minoxidil in androgenetic alopecia
Low SULT activity in hair follicles leads to better response to oral minoxidil for hair loss.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Morphologische und biochemische untersuchungen am Haar bei gestörtem Aminosäurestoffwechsel
Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
research Resolution of experimental malaria-associated acute respiratory distress syndrome is Alox12 independent and shows residual inflammation
Resolving malaria-related lung issues doesn't rely on Alox12 and leaves some inflammation.
research Activation of Polyamine Catabolism Profoundly Alters Tissue Polyamine Pools and Affects Hair Growth and Female Fertility in Transgenic Mice Overexpressing Spermidine/SpermineN 1-Acetyltransferase
Overexpressing a specific enzyme in mice causes hair loss and female infertility.
research Supplementary file 1_Evaluation of the efficacy and treatment-emergent adverse events of deuruxolitinib for moderate to severe alopecia areata: a dose-ranging meta-analysis of 1,372 randomized patients.docx
Deuruxolitinib effectively treats alopecia areata but may cause manageable side effects.