research Mitochondrial DNA 10158T>C Mutation in a Patient with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
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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 Regenerating the Skin: A Task for the Heterogeneous Stem Cell Pool and Surrounding Niche
Different types of stem cells and their environments are key to skin repair and maintenance.
research Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy
The research suggests that autophagy-related genes might play a role in causing alopecia areata.
research Botanical Extract Combined with Minoxidil Improves Hidrotic Ectodermal Dysplasia Caused by p.G11R Mutations: A Case Report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
research The Pathophysiology of Polycystic Ovary Syndrome: Understanding PCOS and Its Endocrinology
The conclusion is that PCOS is caused by ovarian sensitivity to hormones and disrupted hormone control, possibly due to ovarian factors, and more research is needed.
research COVID-19: Understanding Inter-Individual Variability and Implications for Precision Medicine
The conclusion is that individual differences in COVID-19 severity are influenced by factors like age, sex, race, and genetics, which are important for personalized medicine.
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 Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research A Glutathione-Dependent Control of the Indole Butyric Acid Pathway Supports Arabidopsis Root System Adaptation to Phosphate Deprivation
Glutathione helps Arabidopsis roots adapt to low phosphate by regulating a specific growth pathway.
research Why Were Sardinians the Shortest Europeans? A Journey Through Genes, Infections, Nutrition, and Sex
Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.
research Discovery of Genes and Proteins Possibly Regulating Mean Wool Fibre Diameter Using cDNA Microarray and Proteomic Approaches
Researchers identified genes and proteins that may influence wool thickness in sheep.
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 A Molecular Wound Response Program Associated With Regeneration Initiation in Planarians
Planarian regeneration begins with a specific gene activation caused by injury, essential for healing and tissue regrowth.
research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research COVID-19 and Sex Differences: Mechanisms and Biomarkers
Men are more likely to have severe COVID-19 cases and fatalities than women due to factors like lifestyle, aging, and biological differences.
research Epidermal Stem Cell Diversity and Quiescence
Epidermal stem cells are diverse and vary in activity, playing key roles in skin maintenance and repair.
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 Pathophysiological Mechanisms Implicated in Postpartum Depression
Postpartum depression is linked to changes in brain chemicals, inflammation, stress, and certain genes, and can potentially be identified by markers like specific steroids, serotonin levels, and vitamin D levels.
research Dermal Adipocyte Lipolysis and Myofibroblast Conversion Are Required for Efficient Skin Repair
Fat cells in the skin help start healing and form important repair cells after injury.
research Quantitative Single-Cell Approaches to Stem Cell Research
New single-cell analysis techniques are improving our understanding of stem cells and could help in treating diseases.
research Diagnosis of Hyperandrogenism: Clinical Criteria
The document concludes that hirsutism is the main sign for diagnosing hyperandrogenism, which requires a detailed patient history and physical exam.
research Polycystic Ovary Syndrome and Insulin-Resistant Hyperinsulinemia
Insulin resistance contributes to hormone imbalances in many women with polycystic ovary syndrome.
research Regionalization of the Skin
Skin varies in thickness, color, and features due to complex genetic and cellular processes.
research The Changing Landscape of Alopecia Areata: The Translational Landscape
New treatments for hair loss are showing promise due to better understanding of genetics and the immune system.
research The Association Between HDAC9 Gene Polymorphisms and Stroke Risk in the Chinese Population: A Meta-Analysis
Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
research Clonal Analysis of Stem Cells in Differentiation and Disease
New techniques have enhanced our understanding of how stem cells function and the role of mutations in aging tissues, which may influence future cancer therapies.
research Translational Positioning of Janus Kinase (JAK) Inhibitors in Alopecia Areata
JAK inhibitors may help treat Alopecia Areata but need careful monitoring due to side effects.
research Hirsutism and Virilization
Hirsutism is common body hair growth due to genetics and hormones, and while not a disease, it can be distressing; virilisation includes hirsutism with other male traits and needs medical attention.
research Polycystic Ovary Syndrome: Features, Diagnostic Criteria, and Treatments
PCOS is a long-term condition that needs more research for better understanding and treatment.