research Genome-wide association study of skin complex diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
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research The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Molecular mapping of lymph node metastases by real-time reverse transcription polymerase chain reaction in two melanoma patients
The conclusion is that a certain test might help find cancer spread in lymph nodes for melanoma patients, but more research is needed due to false positives.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Epigenetic mechanism of Gtl2-miRNAs causes the primitive sheep characteristics found in purebred Merino sheep
A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Genetic Prediction of Eye, Hair, and Skin Color: Forensic Applications and Challenges in Latin American Populations
Accurate prediction of eye, hair, and skin color in Latin American populations requires region-specific models and ethical guidelines.
research Inheritance of Some Electrophoretic Phenotypes of Human Hair
Human hair protein patterns are inherited genetically.
research Generation of a Novel Inducible and Dermal Papilla‐Specific Wif1‐CreER Knock‐In Mouse Line for Hair Follicle Research
A new genetic tool improves the study of hair growth and potential hair disorder treatments.
research GWASs Identify Genetic Loci Associated with Human Scalp Hair Whorl Direction
Certain genes influence the direction of hair whorls on the scalp.
research Genetic prediction of male pattern baldness based on large independent datasets
New models predict male pattern baldness better than old ones but still need improvement.
research Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research 197 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 Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
research ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
research Estudo da diversidade dos genes MC1R e SLC24A5 em populações globais: avaliação de aspectos evolutivos e ambientais
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
research Characterization of DNA Methylation and Screening of Epigenetic Markers in Polycystic Ovary Syndrome
DNA methylation changes in women with PCOS could be used as disease markers and suggest new treatment targets.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
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 A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.