research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
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300-330 / 1000+ results research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Pseudomonas aeruginosa heme metabolites biliverdin IXβ and IXδ are integral to lifestyle adaptations associated with chronic infection
Biliverdin IXβ and IXδ help Pseudomonas aeruginosa adapt to chronic infections.
research Die pathogenetische Bedeutung der 5α-Reduktase-Isoenzyme für die androgenetische Alopezie
Type 2 5α-reductase plays a key role in hair loss.
research Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research Steroid 5α-reductases and 3α-hydroxysteroid dehydrogenases: key enzymes in androgen metabolism
Key enzymes control androgen levels, affecting hormone activity and potential treatments.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Inhibition of 5-Alpha Reductase Attenuates Cardiac Oxidative Damage in Obese and Aging Male Rats via the Enhancement of Antioxidants and the p53 Protein Suppression
Finasteride improves heart function in obese and aging male rats by reducing oxidative stress and p53 protein levels.
research Association of oxidative stress in mild patchy alopecia areata: a case- control study
Oxidative stress is linked to mild patchy alopecia areata.
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research Oxidative stress and antioxidant markers in patients with alopecia areata: A comparative cross-sectional study
Patients with alopecia areata have higher oxidative stress and lower antioxidant levels.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research P78 Acrodermatitis enteropathica in children: clinical cases
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
research Pathogenesis of Hand-Foot Syndrome induced by PEG-modified liposomal Doxorubicin
PEGL-DOX causes Hand-Foot Syndrome due to skin reactions from prolonged circulation and ROS generation.
research Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
research Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency
Biotin supplements can effectively treat hair loss and skin issues in certain enzyme deficiencies.
research Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role
Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
research Preparation of Finasteride via Oxidative Elimination of 2-Iododihydrofinasteride by Using Peroxydisulfates as Oxidizing Agents
Using K2S2O8 as an oxidizing agent in a specific condition, we can make Finasteride with 96.3% yield and 99.6% purity. This method is also good for other compounds and is environmentally friendly.
research Biomarker of Oxidative Stress in Premature Hair Graying at Young Age
People with premature hair graying have an imbalance between harmful and protective molecules in their body, hinting that antioxidants might help.
research Pityriasis rubra pilaris unveiling a case of a new onset hepatitis C infection
A woman with a skin disorder was found to have hepatitis C, which may be linked, and was safely treated with methotrexate.
research A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research 331 Mitochondrial stress contributes to atopic dermatitis
Mitochondrial stress can lead to atopic dermatitis.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research The Role of 11-Oxygenated Androgens and Endocrine Disruptors in Androgen Excess Disorders in Women
PCOS involves high 11-oxygenated androgens and BPA may worsen it, while IH is not inflammatory.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Risk of estrogen-driven malignancies in females on 5-alpha reductase inhibitors
research 5α‐Reductase Isozymes and Androgen Actions in the Prostate
5α‐reductase isozymes are crucial for prostate development and health, and targeting them can help prevent and treat prostate issues.