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.
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research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Adrenal causes of endocrine hypertension in childhood or adolescence
Adrenal disorders often cause high blood pressure in young people.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Androgen receptors and their biology
Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
research Lamins in development, tissue maintenance and stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research How to diagnose a lipodystrophy syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research Generation of Cashmere Goats Carrying an EDAR Gene Mutant Using CRISPR-Cas9-Mediated Genome Editing
CRISPR-Cas9 can successfully edit genes in large mammals like Cashmere goats.
research KERATINS AND SKIN DISORDERS
Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Roles of Wnt7a in embryo development, tissue homeostasis, and human diseases
Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.
research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research The role of aquaporins in polycystic ovary syndrome – A way towards a novel drug target in PCOS
Aquaporins could be new drug targets for treating polycystic ovary syndrome.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research The Role of Histone Demethylases in Disease
Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
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 The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Acne-Associated Syndromes
Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
research Ligand-Independent Actions of Vitamin D Receptor
The vitamin D receptor helps maintain hair and bone health even without binding vitamin D.
research Polymorphism of Exon V of prolactin gene and its association with Cashmere traits in Changthangi Pashmina goats
The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
research Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
The ASIP gene is crucial for determining cattle coat color.
research Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.