research PNKP Is Required for Maintaining the Integrity of Progenitor Cell Populations in Adult Mice
PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
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research A Pilot Study of Intrascalp Platelet-Rich Plasma Injections for Hair Loss in Nigerian Patients
The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
research Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Childhood-Onset Systemic Lupus Erythematosus with Trisomy X and Increased Risk for Bone Complications: A Case Report
A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
research Molecular Regulatory Mechanisms in Chicken Feather Follicle Morphogenesis
The document concludes that various signaling pathways and genetic factors are crucial for chicken feather development, affecting poultry quality.
research Androgenetic Alopecia in a Patient with Klinefelter Syndrome: Case Report and Literature Review
Finasteride may effectively treat hair loss in Klinefelter Syndrome patients.
research Development of Squamous Cell Carcinoma from Erythroplasia of Queyrat Following Photodynamic Therapy
Photodynamic therapy may not work for erythroplasia of Queyrat and could lead to invasive squamous cell carcinoma.
research Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research References
research Methylenetetrahydrofolate Reductase C677T Mutation in Patients with Alopecia Areata in Turkish Population
The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
research Are Sex Hormones Promising Candidates to Explain Sex Disparities in the COVID-19 Pandemic?
Sex hormones like estrogen and testosterone may affect COVID-19 severity differently in men and women, potentially influencing prevention and treatment strategies.
research Sex Differences in the Hypothalamic–Pituitary–Adrenal Axis’ Response to Stress: An Important Role for Gonadal Hormones
Male and female bodies respond differently to stress, influenced by hormones and development stages, with implications for stress-related diseases.
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 Common Variants in the Sex Hormone-Binding Globulin Gene Influence SHBG Levels in Women with Polycystic Ovary Syndrome
Certain SHBG gene variants, like rs727428, are linked to higher testosterone levels in women with PCOS.
research Current Protocols: Alopecia Areata Mouse Models for Drug Efficacy and Mechanism Studies
The C3H/HeJ mouse model is useful for studying and testing treatments for alopecia areata.
research Perspectives in Dermatopathology: Telomeres and Telomerase in Aging and Cancer with Emphasis on Cutaneous Disease
Short telomeres contribute to aging and cancer, and while telomerase can delay aging, it may also promote cancer.
research Recent Advances in Neuropeptide-Related Omics and Gene Editing: Spotlight on NPY and Somatostatin and Their Roles in Growth and Food Intake of Fish
New tools show that in fish, NPY increases feeding and somatostatin decreases it.
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 Androgen Receptor CAG Repeat Length Is Associated With Ovarian Reserve But Not With Ovarian Response
The length of CAG repeats in the androgen receptor gene is linked to ovarian reserve but does not affect how the ovaries respond to stimulation.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Nonalcoholic Fatty Liver Disease and Polycystic Ovary Syndrome
People with PCOS, especially if obese, often have NAFLD, linked to obesity, insulin resistance, and high androgen levels.
research Association of Single Nucleotide Polymorphisms in the RAB5B Gene 3′UTR Region with Polycystic Ovary Syndrome in Chinese Han Women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research Role of Sulfur Metabolism Gene and High-Sulfur Gene Expression in Wool Growth Regulation in the Cashmere Goat
Certain genes related to sulfur metabolism are more active during the growth phase of Cashmere goat wool, and melatonin might help this process.
research Genetic Screening of Non-Classic CAH Females with Hyperandrogenemia Identifies a Novel CYP11B1 Gene Mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research CAG Repeat Testing of Androgen Receptor Polymorphism: Is This Necessary for the Best Clinical Management of Hypogonadism?
Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
research Non-Classic Congenital Adrenal Hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Editor's Evaluation: Role of Distinct Fibroblast Lineages and Immune Cells in Dermal Repair Following UV Radiation-Induced Tissue Damage
Different types of sun exposure damage skin cells and immune cells, with chronic exposure leading to more severe and lasting damage.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Cutaneous Features of Myotonic Dystrophy Types 1 and 2: Implications of Premature Aging and Vitamin D Homeostasis
Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.