research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
Search
for
Sort by
Research
330-360 / 1000+ results research Nano-CoCr2O4 Catalysts Promote the Synthesis of Diamino Pyrimidine Oxide Derivatives
CoCr2O4 catalysts effectively and sustainably produce diaminopyrimidine oxides with high yield.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Fast Motions in 5 Alpha Reductase and Its Impact on Enzyme Kinetics
Efficient enzyme function relies on specific residue interactions and structural coordination.
research Trends in the Development of New Drugs for Treatment of Benign Prostatic Hyperplasia
New treatments for enlarged prostate are being developed to be more effective and have fewer side effects.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research A novel regio-specific cyclosporin hydroxylase gene revealed through the genome mining of Pseudonocardia autotrophica
Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
research A Definitive Role of Ornithine Decarboxylase in Photocarcinogenesis
Inhibiting ODC can prevent UV-induced skin cancer.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Biosynthesis of Dihydrotestosterone by a Pathway that Does Not Require Testosterone as an Intermediate in the SZ95 Sebaceous Gland Cell Line
Dihydrotestosterone can be made from dehydroepiandrosterone in skin cells without needing testosterone.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research 5-Alpha reductase deficiency
5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
research Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
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 Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research 3a-Phenylhexahydropentalene-1,6-dione
A rigid compound with a common structural motif was successfully synthesized.
research ISIDLB1777 - A novel ex vivo model of human hair follicle immune privilege collapse reveals the potential of farudodstat, a DHODH inhibitor, as a therapeutic for alopecia areata treatment
Farudodstat may effectively treat alopecia areata by protecting hair follicles without harmful effects.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research Identification of a Cyclosporine-Specific P450 Hydroxylase Gene through Targeted Cytochrome P450 Complement (CYPome) Disruption in Sebekia benihana
A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research Effect of 3-Beta Hydroxysteroid Dehydrogenase on Serum Testosterone Level in Obese Women With Polycystic Ovary Syndrome
3βHSD2 is not useful for diagnosing PCOS.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research The Case Files
The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
research LUNG IS A BATTLEFIELD: DIFFUSE ALVEOLAR HEMORRHAGE IN ANTIPHOSPHOLIPID SYNDROME
Early recognition and a team approach are crucial for managing diffuse alveolar hemorrhage in antiphospholipid syndrome.
research Hepatocyte growth factor combined with adenosine deaminase as biomarker for diagnosis of tuberculous pleural effusion
HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.
research DEVELOPING NEW DUAL-ACTION ANTIVIRAL/ANTI-INFLAMMATORY SMALL MOLECULES FOR COVID-19 TREATMENT USING IN SILICO AND IN-VITRO APPROACHES
Hit15 shows promise as a COVID-19 treatment by reducing virus infection and inflammation.