research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
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research What does acne genetics teach us about disease pathogenesis?
Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
research The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis
Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research Mechanisms of tolerance and potential therapeutic interventions in Alopecia Areata
Targeting immune tolerance issues in Alopecia Areata could restore hair growth and maintain remission.
research Acne-Associated Syndromes
Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Transplantation immunology: Solid organ and bone marrow
Transplant success has improved with better immunosuppressive drugs and donor matching.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Generation of an integration-free human induced pluripotent stem cell line MUSIi010-A from occipital scalp fibroblasts of a male patient with androgenetic alopecia
Scientists created MUSIi010-A, a stem cell line from a balding man's scalp, to study hair loss and develop potential treatments.
research Higher Levels of Steroidogenic Acute Regulatory Protein and Type I 3β-Hydroxysteroid Dehydrogenase in the Scalp of Men with Androgenetic Alopecia
Men with baldness have higher levels of specific proteins, suggesting local hormone production may play a role in hair loss.
research Spontaneous cutaneous adverse drug reaction reports—An analysis of a 10‐year dataset in Singapore
In Singapore, most skin reactions to drugs were in females and Chinese, often caused by painkillers, antibiotics, and some other drugs, with serious cases linked to genetics.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research TATA LAKSANA TERKINI PENYAKIT SINDROM STEVENS-JOHNSON (SSJ)/ NEKROLISIS EPIDERMAL TOKSIK (NET)
Early diagnosis, stopping the suspected drug, and supportive care are crucial for treating Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Forum
The document concludes that various medications and treatments can have significant, sometimes adverse, effects on health outcomes.
research The Rotterdam Study: 2014 objectives and design update
The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
research The Rotterdam Study: 2012 objectives and design update
The Rotterdam Study updated its design and objectives in 2012, providing insights into various diseases in the elderly, including skin cancer, bone health, liver disease, neurological and psychiatric conditions, and respiratory issues.
research The role of tight junctions in skin barrier function and dermal absorption
Tight junctions are key for skin protection and controlling what gets absorbed or passes through the skin.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Epidemiology and burden of alopecia areata: a systematic review
Alopecia areata is a common autoimmune disease affecting about 2% of people, causing significant disability and often associated with mental health issues and other autoimmune conditions.
research Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Six Novel Susceptibility Loci for Early-Onset Androgenetic Alopecia and Their Unexpected Association with Common Diseases
Six new genetic regions linked to early hair loss also connect to Parkinson's disease and prostate cancer, possibly leading to new treatments.
research Alopecia areata: Animal models illuminate autoimmune pathogenesis and novel immunotherapeutic strategies
Animal models have helped understand hair loss from alopecia areata and find new treatments.
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk
Researchers found 71 genetic regions linked to male pattern baldness, which account for 38% of its genetic risk.
research Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.