research Signal Transducer and Activator of Transcription 5B Deficiency Due to a Novel Missense Mutation in the Coiled-Coil Domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
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research New Biomarkers to Evaluate Hyperandrogenemic Women and Hypogonadal Men
The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
research The Effect of Dietary Modulation of Sulfur Amino Acids on Cystathionine Beta Synthase–Deficient Mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
research Variant 1859G→A (Arg620Gln) of the Hairless Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.
research The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Small Intestinal Organoid-Derived SP Cells Contribute to Repair of Irradiation-Induced Skin Injury
Intestinal stem cells can help repair skin damage from radiation.
research The Effects of Estrogens on Linear Bone Growth
Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.
research Biotinidase Deficiency Characterized by Skin and Hair Findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research Association of Estrogen Receptor Gene Variants (ESR1 and ESR2) with Polycystic Ovary Syndrome in Tunisia
Certain gene variants in estrogen receptors are linked to polycystic ovary syndrome, mainly affecting metabolism, in Tunisian women.
research Nutrition Interventions for Obesity
Eating less and exercising more, with personalized diet plans and realistic goals, can lead to weight loss and better health, but more research is needed for long-term success.
research Modulation of Genomic and Postgenomic Alterations in Non-Cancer Diseases and Critical Periods of Life
N-acetyl-L-cysteine (NAC) can prevent DNA damage and protect cells from harm.
research The Critical Roles of Serum/Glucocorticoid-Regulated Kinase 3 (SGK3) in Hair Follicle Morphogenesis and Homeostasis
SGK3 is essential for proper hair growth and health.
research The Androgen Receptor Gene Polyglycine Repeat Polymorphism Is Associated With Memory Performance In Healthy Chinese Individuals
Certain gene variations are linked to better memory in healthy Chinese women.
research Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza
Selective breeding caused the unique curly hair in Mangalitza pigs.
research Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Evaluation of the 5α-Reductase Inhibitor Finasteride on Reproduction and Gonadal Development in Medaka, Oryzias Latipes
Finasteride negatively affects fish reproduction and gonadal development.
research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Regeneration After Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research Mapping of Cis-Acting Expression Quantitative Trait Loci in Human Scalp Hair Follicles
Researchers identified genes in scalp hair follicles that may affect hair traits and hair loss.
research Comparison of the Effectiveness of Different Snare Types for Collecting and Retaining Hair from Eurasian Lynx (Lynx lynx)
Wire brush snares are best for collecting Eurasian Lynx hair for DNA analysis.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Association Between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population
Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
research Management of Toxicities of Targeted Therapies
Targeted therapies for lung cancer are effective but require careful management of side effects to benefit patients.
research ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
research Grey, Curly, and Short-Haired Swiss Holstein Cattle Show Genetic Traces of the Simmental Breed
Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Neural Crest Cells Give Rise to Non-Myogenic Mesenchymal Tissue in the Adult Murid Ear Pinna
Certain cells in the adult mouse ear come from cranial neural crest cells, but muscle and hair cells do not.