research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
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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 Role of S-Palmitoylation by ZDHHC13 in Mitochondrial Function and Metabolism in Liver
ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
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 Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
research Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
research A Preliminary Study of Finasteride in Tourette Syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
research Kin-Cohort Analysis of LRRK2-G2019S Penetrance in Parkinson's Disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
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 No Evidence for THAP1/DYT6 Variants as Disease Modifiers in DYT1 Dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Ability to Cycle Despite Severe Freezing of Gait in Atypical Parkinsonism in Fahr's Syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Encephalitis Lethargica Due to Epstein–Barr Virus Infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Desferrioxamine Treatment of Aceruloplasminemia: Long-Term Follow-Up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research Pathological Findings in a Case of Stiff Person Syndrome with Anti-GAD Antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research Mammalian Keratin-Associated Proteins (KRTAPs) Subgenomes: Disentangling Hair Diversity and Adaptation to Terrestrial and Aquatic Environments
Different hair types in mammals are linked to variations in specific protein genes, with changes influenced by their living environments.
research Embryonic-Like Regenerative Phenomenon: Wound-Induced Hair Follicle Neogenesis
New hair can grow from large wounds in mice, but less so as they age, involving reprogramming of skin cells and specific molecular pathways.
research Combinatorial Expression of Cell Cycle Regulators Is More Suitable for Immortalization Than Oncogenic Methods in Dermal Papilla Cells
Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.
research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Sequence and Expression of Human Hair Keratin Genes
Human hair keratin genes are similar to mouse genes and are specifically expressed in hair follicles.
research Age-Associated Inflammation Inhibits Epidermal Stem Cell Function
Aging causes skin stem cells to work less effectively.
research Novel Insights Into the Molecular Mechanisms Underlying Generalized Glucocorticoid Resistance and Hypersensitivity Syndromes
Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
research Genomic and Phenotypic Characterization of Investigator Global Assessment (IGA) Scale-Based Endotypes in Atopic Dermatitis
Different types of atopic dermatitis were linked to specific genetic and immune changes, suggesting that severe cases might need stronger immune-targeting treatments.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Whole-Genome Sequencing of Eight Goat Populations for the Detection of Selection Signatures Underlying Production and Adaptive Traits
Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
research A Case of Ayme-Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Challenges Associated With the Identification of Germline Variants on Myeloid Malignancy Genomic Profiling—A Singaporean Experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
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 The Potential Relevance of the Microbiome to Hair Physiology and Regeneration: The Emerging Role of Metagenomics
Bacteria in our hair can affect its health and growth, and studying these bacteria could help us understand hair diseases better.
research Mixing the Old with the New: Drug Repurposing for Immune Deficiency in the Era of Precision Medicine and Pediatric Genomics
Using old drugs for new uses can help treat rare immune deficiencies.
research Viral-Associated Trichodysplasia Spinulosa: A Case with Electron Microscopic and Molecular Detection of the Trichodysplasia Spinulosa-Associated Human Polyomavirus
A rare skin condition was confirmed to be associated with a specific virus in a young girl.