research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
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research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Chronic overlapping pain conditions and nociplastic pain
Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
research Hair Loss: Pathogenesis and Prevention: A Literature Review
Hair loss is caused by genetics, hormones, stress, and environment, and can be managed with good nutrition, stress control, and treatments.
research The role of AUTS2 in neurodevelopment and human evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
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 Characterization of Hair Follicle Antigens Targeted by the Anti-Hair Follicle Immune Response
Alopecia areata is an autoimmune disorder causing hair loss, linked to specific hair follicle antigens and genetic factors.
research A Comprehensive Review on Skin Pigmentation-Types, Causes, and Treatment
Skin pigmentation varies due to genetics, UV exposure, and medications, with treatments available but requiring medical advice.
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 Synopsis: 2005 Annual Meeting of the American Society of Andrology
The meeting highlighted promising genetic treatments for male fertility issues but noted concerns about certain cancer risks and ICSI safety.
research Premature Graying of Hair: A Comprehensive Review and Recent Insights
Premature graying of hair is mainly caused by genetics, stress, and environment, with potential treatments being explored.
research Polycystic ovary syndrome in adolescents
Polycystic Ovary Syndrome (PCOS) in teenagers is a complex condition linked to genetics and environment, often associated with obesity and insulin resistance, and is treated with lifestyle changes and medication.
research Overlapping features of atopic dermatitis and alopecia areata: from pathogenesis to treatment
Atopic dermatitis and alopecia areata share immune and genetic factors, and targeted therapies may help both.
research E-Poster
Early diagnosis, genetic testing, and innovative treatments are crucial for managing complex medical conditions.
research Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
Hair greying is mainly influenced by age, with genetics playing a smaller role.
research Genomic Markers and Personalized Medicine in Androgenetic Alopecia: A Comprehensive Review
Personalized treatments for hair loss are becoming more effective by using genetic information.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Biology of hair pigmentation and its role in premature canities
Early hair graying is often inherited and influenced by genetics, environment, and lifestyle, but treatment options are limited.
research Guava (Psidium guajava L.) Leaf Extract as Bioactive Substances for Anti-Androgen and Antioxidant Activities
Guava leaf extract may help treat hair loss and protect cells by blocking certain genes and fighting damaging molecules.
research Pathomechanisms of immune-mediated alopecia
The study concluded that immune cells attacking hair follicles cause hair loss in alopecia, with genetics and environment also playing a role, and highlighted the potential of certain treatments.
research Vaccines, adjuvants and autoimmunity
Vaccines are generally safe, but rare autoimmune reactions can occur, often influenced by genetics.
research Type 1 Diabetes Mellitus and Autoimmune Diseases: A Critical Review of the Association and the Application of Personalized Medicine
Type 1 diabetes often occurs with other autoimmune diseases, and personalized treatment based on genetics can improve outcomes.
research Personalized Medicine in the Field of Inflammatory Skin Disorders
Personalized medicine is important for treating skin disorders, with new treatments and connections to hormones and genetics being explored.
research Rare and Underappreciated Causes of Polycystic Ovarian Syndrome
Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Abstracts from the 4th Annual Student Medical Summit
The document concludes that more research is needed to reduce frequent hospital visits, addiction medicine education improves with specific training, early breast cancer surgery findings are emerging, nipple smears are not very accurate, surgery for older melanoma patients doesn't extend life, a genetic condition in infants can often be treated with one drug, doctors are inconsistent with blood clot medication, a certain gene may protect against cell damage, muscle gene overexpression affects many other genes, and some mitochondrial genes are less active in mice with tumors.
research Comprehensive transcriptome and methylome analysis delineates the biological basis of hair follicle development and wool-related traits in Merino sheep
Key genes and factors crucial for hair follicle development and wool traits in Merino sheep were identified.