research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
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research Disrupted Cholesterol Biosynthesis and Hair Follicle Stem Cell Impairment in the Onset of Alopecia
Disrupted cholesterol production impairs hair follicle stem cells, leading to hair loss.
research Critical Evaluation of the Concept of Genetics in Ayurveda with Special Reference to Eight Undesired Body Types (Ashta Nindit)
Ayurveda's descriptions of genetic disorders align with modern genetic understanding.
research Independent DSG4 Frameshift Variants in Cats with Hair Shaft Dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Tackling Underrepresentation to Aid Understanding of Parkinson’s Disease: Progress and Further Opportunities
Addressing underrepresentation in Parkinson's research is crucial for better treatments and understanding.
research The Story of When Kidneys Fail and the Contribution of Air Vice-Marshal Sir Ralph Jackson
Air Vice-Marshal Sir Ralph Jackson significantly advanced dialysis technology in the UK.
research Hypotrichosis and Alopecia
Accurate diagnosis and tailored treatments are crucial for managing hair loss in humans and animals.
research Perspectives of Alopecia Behind the Regulation of Foxn1 Gene Exposes the Human Nude Phenotype
The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
research Clinical Course of the First Japanese Family with Marie Unna Hereditary Hypotrichosis: A Follow-Up Report
The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
research Glossary
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 Definition Criteria and Diagnostic Assessments for Polycystic Ovary Syndrome
The document concludes that accurate diagnosis and management of PCOS are crucial due to its associated health risks.
research Obstetric Dermatology
The document concludes that managing skin conditions during pregnancy is important and requires specialized care.
research Main Plenary Sessions: Summaries of Papers
UK medical students lack dermatology education, liver biopsy patients with risk factors show more fibrosis, and certain fungi resist drugs due to melanin; genetics may influence female hair loss.
research Australasian Society for Dermatology Research Meeting, May 2007
The document suggests a bacteria plays a significant role in acne rosacea and that white hair can regain color after transplant, meriting more research on reversing grey hair.
research Effectiveness of Terbinafine in Treating Toenail Onychomycosis and Associated Studies
Terbinafine is more effective than itraconazole for toenail fungus, especially in older patients, and debridement improves its effectiveness.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Cutaneous Signals of Immune System Disease
Skin issues can indicate immune system problems.
research Alopecia With Vitamin D-Dependent Rickets Type 2A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Answer
Cyclosporine-A can cause excessive hair growth, which usually stops after discontinuing the drug.
research Causes and Management of Hypertrichosis
research A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
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 FGF5 Is a Crucial Regulator of Hair Length in Humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research A Recently Characterized, Underdiagnosed Cause of Female Androgenetic Alopecia and Polycystic Ovarian Syndrome: Non-Classical 21 Hydroxylase Deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research 46,XY Disorders of Sex Development Due to Type 2 5-Alpha Reductase Deficiency in Three Siblings: A Case Report from a Low-Resource Setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells
Baricitinib reduces inflammation and improves cell health in premature aging cells.
research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.