research Taurine, a non-proteinous essential amino acid for human body systems: an overview
Taurine is important for many body functions and its deficiency can cause health problems.
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510-540 / 1000+ results research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Sulfur Containing Tyrosine Analogs Can Cause Selective Melanocytotoxicity Involving Tyrosinase-Mediated Apoptosis
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Keratosis Follicularis
Keratosis Pilaris Atrophicans causes skin scarring and might be treated with a new synthetic retinoid.
research Transcriptomic insights into the effects of tyrosine on sub-Columbian plumage in H line chickens
A 1.0% tyrosine diet increases melanin in chicken feathers.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Ornithine Decarboxylase Expression Leads to Translocation and Activation of Protein Kinase CK2 in Vivo
High ornithine decarboxylase levels may lead to hair loss and cancer by increasing CK2 activity in the nucleus.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
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 Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Pyruvate Kinase M2 Promotes Hair Regeneration by Connecting Metabolic and Wnt//β-Catenin Signaling
Pyruvate Kinase M2 helps hair grow by linking energy production and a key hair growth pathway.
research The Hidden Link between Polycystic Ovary Syndrome and Kidney Stones: Finding from the Tehran Lipid and Glucose Study (TLGS)
Women with PCOS are more likely to develop kidney stones, especially those with certain PCOS types.
research Physiologic functions of PP2A: Lessons from genetically modified mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
research Alopecia Areata Universalis After Phenobarbital-Induced Anti-Convulsant Hypersensitivity Syndrome
A 3-year-old boy lost all his hair due to a rare reaction to phenobarbital, but it grew back after steroid treatment.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Pyruvate Kinase M2 Promotes Hair Regeneration by Connecting Metabolic and Wnt/β-Catenin Signaling
The enzyme pyruvate kinase M2 helps hair regrowth and could be a potential treatment for hair loss.
research Paradise Nut Paradox: Alopecia Due to Selenosis from a Nutritional Therapy
Eating too many paradise nuts for cancer prevention caused a woman to lose all her hair due to selenium poisoning.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research The metabolically protective energy expenditure increase ofPik3r1-related insulin resistance is not explained by Ucp1-mediated thermogenesis
Increased energy use in Pik3r1-related insulin resistance isn't due to Ucp1 thermogenesis.
research Special collection on inward rectifying K+ channels
Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
research Cerebellar Changes in Guinea Pig Offspring Following Suppression of Neurosteroid Synthesis During Late Gestation
research [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
A hereditary condition causes hair loss and twisted hair in some family members.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research 1,25-dihydroxyvitamin D resistance, rickets, and alopecia
A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
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 Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.