research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
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360-390 / 1000+ results research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Thyroid Hormones Directly Alter Human Hair Follicle Functions: Anagen Prolongation and Stimulation of Both Hair Matrix Keratinocyte Proliferation and Hair Pigmentation
Thyroid hormones help hair grow, reduce hair loss, and increase hair pigment.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Adult polycystic ovary syndrome begins in childhood
Polycystic Ovary Syndrome likely starts in childhood and may be genetic and influenced by early hormone exposure.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research Basics of androgen synthesis and action
Androgens like testosterone are important hormones for both men and women, made differently in each sex and affecting the body by regulating genes and quick interactions with cell components.
research Selective Pituitary Resistance to Thyroid Hormone: Clinical Hyperthyroidism with High TSH on Levothyroxine Administration in I-131 Ablated “Graves Disease”
The woman was misdiagnosed with Graves Disease, leading to incorrect treatment, while she actually had Pituitary Resistance to Thyroid Hormone.
research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism*
People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research 266 Glycogen metabolism and Cori cycle in human hair follicles
Human hair follicles have a unique way of using energy and might use the Cori cycle; blocking CCR5 could help treat hair loss.
research Topical Gene Electrotransfer to the Epidermis of Hairless Guinea Pig by Non-Invasive Multielectrode Array
The method safely and efficiently delivers genes to the skin but may not work for conditions needing high levels of gene products.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research RNA-Seq Reveals the Roles of Long Non-Coding RNAs (lncRNAs) in Cashmere Fiber Production Performance of Cashmere Goats in China
lncRNAs influence cashmere fiber traits like diameter and color in goats.
research Relationship of the metabolic syndrome and obesity to polycystic ovary syndrome: A controlled, population-based study
Metabolic syndrome and PCOS are related but separate conditions, with metabolic syndrome increasing the risk of heart disease and diabetes.
research The Polycystic Ovary Syndrome Evolutionary Paradox: a Genome-Wide Association Studies–Based, in silico, Evolutionary Explanation
The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
research Animal Models and the Developmental Origins of Polycystic Ovary Syndrome: Increasing Evidence for the Role of Androgens in Programming Reproductive and Metabolic Dysfunction
High levels of androgens during early development may cause PCOS-like symptoms.
research Androgenetic alopecia, metabolic syndrome, and insulin resistance: Is there any association? A case-control study
Hair loss linked to metabolic issues and insulin resistance; early assessment may reduce future health risks.
research Epidermal Polarity Genes in Health and Disease
Disruptions in epidermal polarity genes can lead to skin diseases.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research The Metabolism and Control Mechanism of Human Hair Follicles
Human hair follicles have a unique metabolism that changes between growth stages and may contribute to baldness.
research Risk Factors for Male Lower Urinary Tract Symptoms: The Role of Metabolic Syndrome and Androgenetic Alopecia in a Latin American Population
Metabolic syndrome linked to urinary symptoms; hair loss not significant.
research Association of AR rs6152G/A gene polymorphism with susceptibility to polycystic ovary syndrome in Chinese women
A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.