research Endocrine Abnormalities in Ring Chromosome 11: A Case Report and Review of the Literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
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research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Polycystic Ovary Syndrome (PCOS): An Inflammatory, Systemic, Lifestyle Endocrinopathy
PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
research Epigenetics of Colorectal Cancer
Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Position Effect on FGF13 Associated with X-Linked Congenital Generalized Hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research Intermittent Treatment with Farnesyltransferase Inhibitor and Sulforaphane Improves Cellular Homeostasis in Hutchinson-Gilford Progeria Fibroblasts
Alternating treatment with two drugs could help cells in a rapid aging disease.
research Biochemical and Structural Characteristics, Gene Regulation, Physiological, Pathological and Clinical Features of Lipocalin-Type Prostaglandin D2 Synthase as a Multifunctional Lipocalin
Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
research Discordant Phenotype in Monozygotic Twins with Mosaic Trisomy 12p in Lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research The Mouse Hairy Ears Mutation Exhibits an Extended Growth (Anagen) Phase in Hair Follicles and Altered Hoxc Gene Expression in the Ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
research From Structural Resilience to Cell Specification: Intermediate Filaments as Regulators of Cell Fate
Intermediate filaments are crucial for cell differentiation and stem cell function.
research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research A Kaleidoscope of Keratin Gene Expression and the Mosaic of Its Regulatory Mechanisms
Keratin protein production in cells is controlled by a complex system that changes with cell type, health, and conditions like injury or cancer.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Ovine KRTAP36-2: A New Keratin-Associated Protein Gene Related to Variation in Wool Yield
The KRTAP36-2 gene in sheep affects wool yield.
research The JAK/STAT Signaling Pathway: From Bench to Clinic
The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
research Vitamin D: More Than a Bona Fide Hormone
Vitamin D is important for bones, hair, blood pressure, and breast development.
research Induction of the Hair Growth Phase in Postnatal Mice by Localized Transient Expression of Sonic Hedgehog
Activating the Sonic hedgehog gene in mice can start the hair growth phase.
research Challenges, Progress, and Prospects of Developing Therapies to Treat Autoimmune Diseases
More precise, personalized therapies are needed for autoimmune diseases.
research A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Biotin And Biotinidase Deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Estrogen and Androgen Signaling in the Pathogenesis of Benign Prostatic Hyperplasia
Hormonal interactions, especially involving DHT and estrogen, play a key role in BPH development and treatment.
research Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata
Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
research FGF5 Is a Crucial Regulator of Hair Length in Humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research Evolution of Hard Proteins in the Sauropsid Integument in Relation to the Cornification of Skin Derivatives in Amniotes
Hard skin features like scales, feathers, and hair evolved through specific protein changes in different animal groups.
research Dynamic Regulation of Retinoic Acid-Binding Proteins in Developing, Adult, and Neoplastic Skin Reveals Roles for β-Catenin and Notch Signaling
Retinoic acid-binding proteins in skin are regulated by β-catenin and Notch signalling.
research Pathology of Mouse Models of Accelerated Aging
Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
research The Enzyme and Inhibitors of 4-Ene-3-Oxosteroid 5α-Oxidoreductase
Inhibitors of the enzyme 5 alpha-reductase could potentially treat disorders like prostate cancer and baldness.
research Delayed Epidermal Permeability Barrier Formation and Hair Follicle Aberrations in Inv-Cldn6 Mice
Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.