research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
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30 / 1000+ results research Whole Exome Sequencing in Alopecia Areata Patients Identifies a Hotspot Mutation in the Type II Hair Keratin Gene, KRT82
A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
research The Role of Rare Variants in Male-Pattern Hair Loss: Analysis of Whole Exome Sequencing Data in the UK Biobank
Rare genetic variants in 125 genes are linked to male-pattern hair loss.
research The Role of Rare Variants in Male-Pattern Hair Loss: Analysis of Whole Exome Sequencing Data in the UK Biobank
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Uncombable Hair Syndrome Due to Maternal Uniparental Disomy of Chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Novel Biallelic RIPK4 Mutations Cause Ectodermal Dysplasia with Cutaneous Syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research News in Brief
Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome: A Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research The Role of Candidate Pharmacogenetic Variants in Determining Valproic Acid Efficacy, Toxicity, and Concentrations in Patients with Epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Phenotypic-Genotypic Expansion of Plectinopathy in a Patient With Muscular Dystrophy and Immune-Mediated Myasthenia Gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Epidermolysis Bullosa Pruriginosa, Muscular Dystrophy, and Immune-Mediated Myasthenia Gravis in a Patient With Homozygous Nonsense PLEC Mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Ichthyosiform Erythroderma: A Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research The Rotterdam Study: 2016 Objectives and Design Update
The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
research Clinical Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome 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 Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Exome Analysis for Cronkhite-Canada Syndrome: A Case Report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.