research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
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research WNT10A, Dermatology and Dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research Whole-Genome Sequencing of Eight Goat Populations for the Detection of Selection Signatures Underlying Production and Adaptive Traits
Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Interactions of the Vitamin D Receptor with the Corepressor Hairless
Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Global Landscapes of Human Phenotypic Variation in Inherited Traits
Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.
research Hypotrichosis Congenita (KRT71 Mutation) in Hereford Cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
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 A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Whole Exome Sequencing in Alopecia Areata Patients Identifies a Hotspot Mutation in the Type II Hair Keratin Gene, KRT82
A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond
Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research IL-17 Axis Is a Significant Driver of Skin Inflammation in CARD14 Mutant Pityriasis Rubra Pilaris Model Mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
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 A Preliminary Study of Finasteride in Tourette Syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
research Desferrioxamine Treatment of Aceruloplasminemia: Long-Term Follow-Up
Finasteride may help reduce symptoms in 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 Whole Genome Scan and Selection Signatures for Climate Adaptation in Yanbian Cattle
The CORT, FGF5, and CD36 genes are crucial for the cold weather adaptation of Yanbian cattle.
research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
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 Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
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 Frontotemporal Dementia with Parkinsonism Presenting as Posterior Cortical Atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.