research Adrenal causes of endocrine hypertension in childhood or adolescence
Adrenal disorders often cause high blood pressure in young people.
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research Aging and Immortality: Quasi-Programmed Senescence and Its Pharmacologic Inhibition
The conclusion is that using drugs to block the TOR pathway might slow aging and prevent age-related diseases.
research WNT Signaling in Disease
The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
research The emerging role of Janus kinase inhibitors in the treatment of autoimmune and inflammatory diseases
Janus kinase inhibitors are promising drugs for treating autoimmune and inflammatory 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 Lamins in development, tissue maintenance and stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
research Hairless is a nuclear receptor corepressor essential for skin function
Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
research Smad4-dependent desmoglein-4 expression contributes to hair follicle integrity
Smad4 is important for healthy hair follicles because it helps produce a protein needed for hair to stick together and grow.
research KERATINS AND SKIN DISORDERS
Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
research The Role of the Slc39a Family of Zinc Transporters in Zinc Homeostasis in Skin
Certain zinc transporters are essential for healthy skin and managing zinc in the body could help treat skin problems.
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 Alopecia areata in a rhesus monkey (Macaca mulatta)
The monkey's hair loss was due to an autoimmune disease, not genetics.
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 Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Great Expectations: Induced pluripotent stem cell technologies in neurodevelopmental impairments
iPSCs help understand and treat neurodevelopmental disorders.
research Formation of the cornified envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
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 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 Clinical case of alopecia totalis in pediatric practice
An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Clinical Case Notes. Castleman's disease of the lacrimal gland
The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research FGF5 is a crucial regulator of hair length in humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.