research High Incidence of Severe Hand-Foot Syndrome During Capecitabine-Docetaxel Combination Chemotherapy
About half the patients treated with capecitabine and docetaxel developed severe hand-foot syndrome.
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research Finasteride for Female Androgenetic Alopecia
Finasteride increases hair density in female androgenetic alopecia, but individual results may vary.
research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
research Lab Quality Management and Methodology
Men with early balding should be checked for metabolic syndrome, as there's a link between the two.
research 20th Annual Symposium of the British Society of Pediatric Dermatology, 11-12 November 2005, Newcastle Upon Tyne, UK
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
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.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
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 The Influence of ESR1 Polymorphisms on Hormonal, Metabolic, and Mineral Balance Markers in Women with Hyperandrogenism
Certain ESR1 gene variations may affect hormone levels and fat distribution in women with high male hormone levels.
research WNT10B (Wingless-Type MMTV Integration Site Family): Role in Biological Processes and Diseases
WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
research 5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research Man-Made Disease: Clinical Manifestations of Low Phenylalanine Levels in an Inadequately Treated Phenylketonuria Patient and Mouse Study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Abstracts From The 55th European Society Of Human Genetics 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 Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Association Analysis of Polymorphisms in Six Keratin Genes with Wool Traits in Sheep
Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
research A Preliminary Study of Finasteride in Tourette Syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
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 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 Lipin 1 Gene Polymorphisms in Polycystic Ovary Syndrome
Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
research Encephalitis Lethargica Due to Epstein–Barr Virus Infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Desferrioxamine Treatment of Aceruloplasminemia: Long-Term Follow-Up
Finasteride may help reduce symptoms 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 A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.