research A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
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30-60 / 289 results research Methylenetetrahydrofolate Reductase C677T Mutation in Patients with Alopecia Areata in Turkish Population
The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
research Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Primary Generalized Glucocorticoid Resistance And Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes
Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
research The E211 G>A Androgen Receptor Polymorphism Is Associated With a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia
E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
research Androgen Receptor CAG Repeat Length Is Associated With Ovarian Reserve But Not With Ovarian Response
The length of CAG repeats in the androgen receptor gene is linked to ovarian reserve but does not affect how the ovaries respond to stimulation.
research Repigmentation of Leukoderma in a Piebald Patient Associated with a Novel c-KIT Gene Mutation, G592E, of the Tyrosine Kinase Domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research A Preliminary Study of Finasteride in Tourette Syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Target-Adverse Events and Fear of Cancer Progression, Anxiety, and Depression in Patients with Advanced Non-Small Cell Lung Cancer
Adverse events in lung cancer treatments increase fear, anxiety, and depression, with newer therapies causing fewer side effects.
research No Improvement in Male-Pattern Hair Loss Using Laser Hair-Comb Therapy: A 6-Month, Half-Head, Assessor-Blinded Investigation in Two Men
Laser hair-comb therapy doesn't improve male-pattern hair loss.
research Androgen Receptor Gene CAG Repeat Polymorphism in Women with Polycystic Ovary Syndrome
Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
research Kin-Cohort Analysis of LRRK2-G2019S Penetrance in Parkinson's Disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research No Evidence for THAP1/DYT6 Variants as Disease Modifiers in DYT1 Dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research The Agouti Mouse Model: An Epigenetic Biosensor for Nutritional and Environmental Alterations on the Fetal Epigenome
Diet changes can protect against harmful environmental effects on fetal development.
research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle
Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
research ERG Induces Androgen Receptor-Mediated Regulation of SOX9 in Prostate Cancer
ERG increases SOX9, promoting prostate cancer growth and invasion.
research Ability to Cycle Despite Severe Freezing of Gait in Atypical Parkinsonism in Fahr's Syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Encephalitis Lethargica Due to Epstein–Barr Virus Infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Pathological Findings in a Case of Stiff Person Syndrome with Anti-GAD Antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research Desferrioxamine Treatment of Aceruloplasminemia: Long-Term Follow-Up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research The Human Type I Keratin Gene Family: Characterization of New Hair Follicle Specific Members and Evaluation of the Chromosome 17q21.2 Gene Domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research Androgen Receptors And Their Biology
Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
research Significance of the Polyglutamine Tract Polymorphism in the Androgen Receptor
The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
research A Case of Red Lunulae After Hematopoietic Stem Cell Transplantation
Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.