research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
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research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
research FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research Diagnostic approach to low‐renin hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Analysis of the FGF gene family provides insights into aquatic adaptation in cetaceans
Whale genes show changes that help them live in water, like less hair and better flippers.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Genomic and transcriptomic landscape to decipher the genetic basis of hyperpigmentation in Lanping black-boned sheep (Ovis aries)
Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Caractérisation d’une modification «bigarré» de la couleur du pelage chez le chat domestique
Variegated coat color in cats is linked to the Silver locus.
research Adrenal causes of endocrine hypertension in childhood or adolescence
Adrenal disorders often cause high blood pressure in young people.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Down-Stream molecular Responses to Volatile Signaling in Roots
Plant roots respond to fungus smells by possibly using certain proteins and a plant hormone to change root growth, but more research is needed.
research Perspectives of Alopecia behind the Regulation of Foxn1 Gene Exposes the Human Nude Phenotype
The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
research Australasian Society for Dermatology Research Meeting, May 2006
The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Long-term dutasteride therapy in men with benign prostatic hyperplasia alters glucose and lipid profiles and increases severity of erectile dysfunction
Long-term use of dutasteride for enlarged prostate may worsen blood sugar, cholesterol, and erectile dysfunction.
research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research 5-Alpha reductase deficiency
5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research Identification and single-cell analysis of prognostic genes related to mitochondrial and neutrophil extracellular traps in bladder cancer
Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.
research Crosstalk between androgen and Wnt/β-catenin leads to changes of wool density in FGF5-knockout sheep
Blocking the FGF5 gene in sheep leads to more fine wool and active hair follicles due to changes in certain cell signaling pathways.