research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
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870-900 / 1000+ results research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
research Twist1 is required for the development of UVB‐induced squamous cell carcinoma
Twist1 is crucial for UVB-induced skin cancer development.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research EP-2271: The role of mitochondria in the non-targeted effect of ionizing radiation
Mitochondria may influence how cells respond to radiation, affecting nearby non-irradiated cells.
research Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Post-Exposure Syndromes as State-Space Trapping: A set-theoretic perspective on PSSD and the post-exposure family.
Post-Exposure Syndromes are persistent conditions caused by past exposures, needing unique interventions.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Zfp462 deficiency causes anxiety‐like behaviors with excessive self‐grooming in mice
Zfp462 deficiency in mice causes anxiety-like behaviors and excessive self-grooming.
research Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family
The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
research A Pharmacogenetic Survey of Androgen Receptor (CAG)N and (GGN)N Polymorphisms in Patients Experiencing Long Term Side Effects after Finasteride Discontinuation
Longer CAG and GGN repeats increase alopecia risk, but no significant link to post-finasteride syndrome found.
research Post-Exposure Syndromes as State-Space Trapping: A set-theoretic perspective on PSSD and the post-exposure family.
Post-exposure syndromes are persistent conditions caused by past exposures, needing unique interventions.
research Molecular Mechanisms in the Etiology of Polycystic Ovary Syndrome (PCOS): A Multifaceted Hypothesis Towards the Disease with Potential Therapeutics
research Clonal expansion from standing genetic variation underpins the evolution of an emerging plant pathogen in Australia
The plant pathogen in Australia evolves through existing genetic variation, not new genotypes.
research Barley disease susceptibility factor RACB acts in epidermal cell polarity and positioning of the nucleus
RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
research Genetic Basis of Male Pattern Baldness
Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.
research Comparison of Androgenetic Alopecia Prevalence in Paternal and Maternal Male Family Members of Male Androgenetic Alopecia Patients
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Decoding the ZmNF-YC1–ZmAPRG pathway for phosphorus efficiency
The ZmNF-YC1–ZmAPRG pathway in maize improves phosphorus efficiency and grain yield, suggesting it as a target for breeding better crops.
research Transposon control as a checkpoint for tissue regeneration
Controlling transposable elements is crucial for successful tissue regeneration.
research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
research The Role of the Hairless (hr) Gene in the. Regulation of Hair Follicle Catagen Transformation
The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
research 1433 Epithelially derived, mitochondrial MPZL3 negatively regulates murine and human hair follicle cycling
A protein called MPZL3 in mitochondria slows down hair growth and could be a target for treating hair growth disorders.