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research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Research Snippets
New hair regrowth model introduced, imiquimod kills skin cancer cells, T-cadherin loss makes skin cancer more invasive, no strong link between PTCH1 gene and skin cancer after transplant, and male teens more likely to have hereditary hair loss.
research Comprehensive Survey of Gut Microbiome Associations with Health Conditions in the Human Phenotype Project
Certain gut microbes are linked to better health in 14 conditions.
research HR Gene Variants Identified in Mexican Patients with Alopecia Areata
A specific gene variant may increase the risk of developing Alopecia Areata.
research Adaptivness of redheadness in humans
Red hair is linked to worse health, especially in women.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Gene that causes woolly hair revealed
Mutations in the P2RY5 gene cause hereditary woolly hair.
research The analysis of genetics and associated autoimmune diseases in Chinese vitiligo patients
Generalized vitiligo in Chinese patients is linked to other autoimmune diseases, especially in familial cases.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research From hair colour to diagnosis
Hair color is influenced by genetics and can indicate certain health conditions.
research Genomics
Genomics can improve patient care by using DNA to create personalized treatment plans.
research Congenital and Hereditary Skin Diseases
Goats can have various genetic skin diseases affecting hair, skin, and thyroid function.
research Going Beyond Hair: Seven Simple Actions We Can Take to Help Prevent Major Illness in Our Hair Transplant Patients
Hair transplant surgeons should also focus on their patients' overall health, including regular check-ups and screening for common health issues.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Social selection favours offspring prone to the development of androgenetic alopecia.
Society's pressure to have children later in life favors genes that increase the risk of early baldness in male offspring.
research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
research In the quest to stymie time, will laboratory data stand up in man?
Genetic manipulations that extend lifespan in mice may not work as effectively in humans.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice
A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
research Delving into diversity: exploring different risk factors of premature greying of hair
Genetics, nutrition, lifestyle, and hormones affect early grey hair, but more research is needed.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research Parental Uveitis Influences Offspring With an Increased Susceptibility to the Experimental Autoimmune Uveitis
Parental uveitis increases offspring's risk and severity of autoimmune eye disease.
research Society News
Smoking doubles the risk of blindness, and physical exercise helps dyslexic children read better.
research EDA2R Is Associated with Androgenetic Alopecia
EDA2R gene linked to hair loss.
research Male pattern baldness: current treatments, future prospects
Current treatments for male pattern baldness include minoxidil and finasteride, with new options being developed.