research Genome Scan for Signatures of Adaptive Evolution in Wild African Goat (Capra Nubiana)
Wild African goats have genetic adaptations for surviving harsh desert conditions.
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research A Novel Splice Site Mutation in LIPH Identified in a Japanese Patient with Autosomal Recessive Woolly Hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Australian Hair and Wool Research Society Cutaneous Biology and Endocrinology Workshop
The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
research The Role of Rare Variants in Male-Pattern Hair Loss: Analysis of Whole Exome Sequencing Data in the UK Biobank
research Cell-Type-Specific Chromatin States Differentially Prime Squamous Cell Carcinoma Tumor-Initiating Cells for Epithelial to Mesenchymal Transition
Different types of skin cells have unique genetic markers that affect how likely they are to spread cancer.
research Early Onset and Novel Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research The Genetics of Alopecia Areata
Alopecia areata has a complex genetic basis that was not fully understood as of 2001.
research De Novo Assembly and Annotation of Asiatic Lion (Panthera Leo Persica) Genome
The Asiatic lion has very low genetic diversity and unique genetic traits, highlighting the need for its conservation.
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 Becker Naevus Syndrome Associated With a Mosaic Pathogenic Variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research A Pilot Study of Intrascalp Platelet-Rich Plasma Injections for Hair Loss in Nigerian Patients
The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
research Maternal Nutrition at Conception Modulates DNA Methylation of Human Metastable Epialleles
A mother's diet at conception can cause lasting genetic changes in her child.
research Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research When Acne, Hirsutism, and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Rare Clinical Features of the Ellis Van Creveld Syndrome: A Case Report and Literature Review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research Frontotemporal Dementia with Parkinsonism Presenting as Posterior Cortical Atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
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 Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Testosterone Levels in Relation to Oral Contraceptive Use and the Androgen Receptor CAG and GGC Length Polymorphisms in Healthy Young Women
Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
research Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Scientific Highlights from the Society for Investigative Dermatology 2010 Annual Meeting
The meeting highlighted major advances in skin research, including new findings on skin microbes, genetic links to skin diseases, and improved treatments for various conditions.
research Recent Updates of the CRISPR/Cas9 Genome Editing System: Novel Approaches to Regulate Its Spatiotemporal Control by Genetic and Physicochemical Strategies
CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed As Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Stem Cell Heterogeneity and Plasticity in Epithelia
Different types of stem cells exist within individual skin layers, and they can adapt to damage, transplantation, or tumor growth. These cells are regulated by their environment and genetic factors. Tumor growth is driven by expanding, genetically altered cells, not long-lived mutant stem cells. There's evidence of cancer stem cells in skin tumors. Other cells, bacteria, and genetic factors help maintain balance and contribute to disease progression. A method for growing mini organs from single cells has been developed.
research Ectodysplasin Research: Where to Next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.