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150-180 / 1000+ resultsresearch Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family
In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
research The nude gene and the skin
This review discusses the molecular and functional aspects of the nude gene in skin biology, providing insights into its role and evolutionary development, but reports no new results.
research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
This review highlights the role of keratin mutations in epidermolysis bullosa simplex and the resulting chronic inflammation, but it presents no new experimental findings.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
research Ichthyosis with confetti: clinics, molecular genetics and management
This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.
research Multiomics-empowered Deep Phenotyping of Ulcerative Colitis Identifies Biomarker Signatures Reporting Functional Remission States
This study suggests that microvascular damage and platelet deregulation may persist in ulcerative colitis patients even during remission, remaining as disease-associated molecular signatures.
research KCNQ Potassium Channels Modulate Sensitivity of Skin Down-hair (D-hair) Mechanoreceptors
In this study, researchers observed that knocking out KCNQ3 in mice increased firing frequencies in response to stimuli, particularly at slow mechanical indentation velocities, indicating a role in mechanosensory neuron sensitivity.
research Mice lacking the epidermal retinol dehydrogenases SDR16C5 and SDR16C6 display accelerated hair growth and enlarged meibomian glands
This study found that the retinol dehydrogenases SDR16C5 and SDR16C6 in mice play a crucial role in skin retinol dehydrogenase activity, affecting hair growth and gland functions without impacting survival.
research Converging physiological roles of the anthrax toxin receptors
This review discusses the physiological roles of anthrax toxin receptors CMG2 and TEM8, highlighting their influence on extracellular matrix homeostasis, angiogenesis, cell migration, and skin elasticity, and reports no new clinical results.
research Molecular Background of Pi Deficiency-Induced Root Hair Growth in Brassica carinata – A Fasciclin-Like Arabinogalactan Protein Is Involved
This study identified that downregulation of the gene BcFLA1 decreases root hair length in Brassica carinata under phosphate-deficient conditions, highlighting its role in root hair elongation.
research A pair of transmembrane receptors essential for the retention and pigmentation of hair
This study in mutant mice found that Bmpr2 and Acvr2a are individually redundant, but together essential for normal hair follicle development, with their reduction causing rapid hair cycling and graying.
research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
Mutations in the Sgk3 gene cause fuzzy hair in mice.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
This study identified specific genetic variants as the cause of visual impairment and non-syndromic alopecia in two brothers, reinforcing the link between PDE6H variants and achromatopsia and LPAR6 variants and alopecia.
research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.
research Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes
This review examines the genetic factors influencing coat color in horses and donkeys, highlighting key genes like MC1R, TYR, MITF, ASIP, and KIT, and discusses implications for selective breeding and the relationship between coat color and specific equine diseases.
research CRISPR/Cas9-mediatedVDRknockout plays an essential role in the growth of dermal papilla cells through enhanced relative genes
This study found that the vitamin D receptor plays a crucial role in hair follicle development in cashmere goats by regulating signaling pathways in dermal papilla cells.
research Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
This article outlines methods to study the skin and its molecular traits, focusing on interpretation and techniques applicable to mouse models, including diverse assays and approaches like electron microscopy and large-scale lipid analyses.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
This study presented cases where potentially significant germline variants were unexpectedly found during genomic profiling for myeloid malignancies, discussing the challenges in genetic counseling and management, especially when variants don't match the patient's condition.
research The Mechanisms of Fur Development and Color Formation in American Mink Revealed Using Comparative Transcriptomics
This study found that differences in skin transcriptomes between juvenile and adult mink, as well as between black and white mink, suggest genes regulating hair color are active during early development rather than adulthood.
research Discovery of Four New FGF5 Variants Causing Long Hair in the Dog
In this study, researchers identified four novel variants in the FGF5 gene associated with the long-haired phenotype in dogs, suggesting additional unexplored genetic factors contribute to this trait beyond the known Lh1-Lh5 alleles.
research Correlation Analysis of CXCL10, FOS, HOXC13, and WNT4 Gene Polymorphisms with Key Economic Traits—Initial Population Screening for Jiangnan Cashmere Goats
In this study, researchers reported that specific gene polymorphisms in Jiangnan cashmere goats, particularly SNPs in the HOXC13 and WNT4 genes, were significantly associated with key economic traits like birth weight and yearling weight, providing molecular markers for breeding and enhancing economic trait stability.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.
research Genetic architecture of thermotolerance traits in beef cattle: a novel integration of SNP and breed-of-origin effects
This study found that integrating breed-specific BOA and SNP-based models helps reveal the genetic factors involved in thermotolerance traits in beef cattle, enhancing insights into thermoregulation and potentially improving cattle's heat resilience.
research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
This study explored a mother and daughter with loose anagen hair syndrome linked to wooly hair, identifying an intronic variant in the KRT71 gene that affects hair keratin splicing, thus broadening the spectrum of KRT71-related disorders.
research Integration Analysis of Transcriptome Sequencing and Whole-Genome Resequencing Reveal Wool Quality-Associated Key Genes in Zhexi Angora Rabbits
In this study of Zhexi Angora rabbits, researchers found that the fine-wool group exhibited lower fiber diameters and a higher hair follicle density than the coarse-wool group, and they identified key candidate genes potentially regulating wool quality through RNA-seq and genome resequencing techniques.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
research Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits
This study found that higher expression of the Hoxc13 gene in specific areas of hair follicles is associated with longer wool length in Gansu alpine fine-wool sheep.
research Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
In this study, the researchers found that rare genetic variants make a minor contribution to male-pattern hair loss risk, identifying five significant gene associations, including novel genes, and noting a shared basis with monogenic hair loss disorders.