research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
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330-360 / 1000+ resultsresearch Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression
The angora mouse mutation causes long hair and hair defects due to a gene deletion.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
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 Spatiotemporal Expression and Haplotypes Identification of KRT84 Gene and Their Association with Wool Traits in Gansu Alpine Fine-Wool Sheep
The KRT84 gene is linked to better wool quality in Gansu Alpine Fine-wool sheep.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Identification and sequence analysis of the keratin-associated protein 24‐1 (KAP24-1) gene homologue in sheep
The research identified a gene in sheep important for wool quality, which could help improve wool traits.
research The sheep KAP8-2 gene, a new KAP8 family member that is absent in humans
Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
research The antiviral activity of a small molecule drug targeting the NSP1-ribosome complex against Omicron, especially in elderly patients
Golvatinib shows promise as a treatment for Omicron in elderly patients.
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 Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Strategies for High-Efficiency Mutation Using the CRISPR/Cas System
Improving CRISPR/Cas systems can make gene editing more efficient and precise.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research Identification of Ovine KRTAP28-1 and Its Association with Wool Fibre Diameter
KRTAP28-1 gene can help breed sheep with finer wool.
research Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes
Genes like MC1R, TYR, MITF, ASIP, and KIT determine horse and donkey coat colors and affect breeding and health.
research Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
research Characterisation of Three Ovine KRTAP13 Family Genes and Their Association with Wool Traits in Chinese Tan Sheep
An allele of the KRTAP13-2 gene may improve wool quality in sheep.
research The Genetic Landscape of Androgenetic Alopecia: Current Knowledge and Future Perspectives
Androgenetic alopecia is influenced by multiple genes and pathways, with genetic risk varying by population, and personalized treatments are being explored.
research Characterisation of Four New Genes in the Ovine KAP19 Family
Four new genes related to sheep wool were discovered, showing genetic diversity.
research Boron deficiency responses in maize (Zea mays L.) roots
Boron deficiency in maize affects leaf boron levels and nutrient uptake differently depending on root hair presence and soil type.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in women from Karnataka is influenced by genetics, family history, and insulin resistance, requiring better diagnosis and treatment.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Spatial and Single-Cell Transcriptional Profiling Identifies Functionally Distinct Human Dermal Fibroblast Subpopulations
Researchers found four distinct fibroblast types in human skin, which could help in treating wounds and fibrotic diseases.
research Coming of Age of Melanogenesis-Related Proteins
Tyrosinase and gp100 proteins can help diagnose and treat melanoma.
research Tabby pattern genetics – a whole new breed of cat
Two genes, Tabby and Ticked, determine cat coat patterns.