research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice
Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
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450-480 / 1000+ resultsresearch Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research Acanthosis nigricans in adolescents with polycystic ovary syndrome
Acanthosis nigricans in teenage girls with PCOS is a sign of obesity, not insulin resistance or glucose intolerance.
research Oral glucose tolerance test significantly impacts the prevalence of abnormal glucose tolerance among Indian women with polycystic ovary syndrome: lessons from a large database of two tertiary care centers on the Indian subcontinent
The oral glucose tolerance test is effective in detecting abnormal glucose tolerance in Indian women with PCOS.
research Hepatic Adenoma in an Adolescent With Elevated Androgen Levels
A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Sex hormone–binding globulin and risk of hyperglycemia in patients with androgenetic alopecia
People with hair loss have higher risk of high blood sugar and diabetes, and lower levels of a specific hormone.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Hair straightening and acute kidney injury: a case series from a medical toxicology service
Hair-straightening products with glyoxylic acid may cause kidney damage.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research IMPAIRMENT OF AUDITORY FUNCTION IN PERSONS WITH TYPE 2 DIABETES MELLITUS DEPENDING ON THE LEVEL OF PERIPHERAL MYELIN PROTEIN
High PMP 22 levels in type 2 diabetes patients may cause hearing loss.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research 23 Studies of the Biochemical Basis of Kinky Hair Disease
research Prehyperuricemia: New Milestone in Metabolic Disorders
The article concludes that early diagnosis and lifestyle changes can prevent complications from high uric acid levels.
research Nonalcoholic fatty liver disease in young adult Egyptian women with polycystic ovary syndrome
Many young Egyptian women with PCOS also have fatty liver disease, especially if they are overweight and insulin resistant.
research EtG Quantification in Hair and Different Reference Cut-Offs in Relation to Various Pathologies: A Scoping Review
EtG in hair can help detect alcohol use but may be inaccurate in people with certain health conditions.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Increased risk of hair loss with GLP-1 receptor agonists: A real-world multicenter TrinetX cohort study
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Acquired progressive kinking of the hair in a Korean female adolescent
A Korean girl developed kinky hair without known cause or effective treatment.
research КЛІНІЧНІ ФЕНОТИПИ ВИСОКОГО РИЗИКУ НАЯВНОСТІ ПЕРВИННИХ МІТОХОНДРІАЛЬНИХ ЦИТОПАТІЙ (частина 2)
Primary mitochondrial cytopathies often cause skin, endocrine, vision, and blood issues, needing careful diagnosis.
research Dermatoses in overweight and obese children and their relationship with insulin and skin color
Being overweight can cause or worsen skin problems in children, some more common in darker skin, and is often linked to insulin resistance.
research The impact of 1-hour plasma glucose on the metabolic characteristics and pregnancy outcomes in polycystic ovary syndrome
High 1-hour plasma glucose in PCOS increases risks of metabolic issues and gestational diabetes.