research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
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research Inherited Disorders of the Hair
The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Alopecia Universalis Associated with a Mutation in the Human hairless Gene
A mutation in the human hairless gene causes alopecia universalis.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research The microanatomy of the distal arrector pili: possible role for α1β1 and α5β1 integrins in mediating cell‐cell adhesion and anchorage to the extracellular matrix
The arrector pili muscle attaches to the extracellular matrix using α5β1 integrin and connects muscle cells using α1β1 integrin.
research Regulatory pathway analysis of coat color genes in Mongolian horses
Genes influence horse coat color and may help understand human skin conditions.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research Pseudallescheria boydii infection associated with IgG4-related disease
Gene sequencing is crucial for diagnosing Junctional epidermolysis bullosa.
research BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth
PCOS is influenced by both genes and environment, but its exact genetic cause is still unclear.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M 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 Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Gene that causes woolly hair revealed
Mutations in the P2RY5 gene cause hereditary woolly hair.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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.