1 citations
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October 2020 in “Research Square (Research Square)” This study identified a 505-bp indel variant in the FGF5 gene associated with cashmere growth in goats, which may serve as a molecular marker in cashmere goat breeding programs.
February 2026 in “MedBA Medicine” This study identified potential new adverse drug reaction signals for erlotinib, used in lung and pancreatic cancer treatment, by analyzing a large dataset of case reports, indicating further clinical studies are necessary to confirm these findings.
75 citations
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January 2004 in “Molecular and Cellular Biology” In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.
November 2021 in “World Family Medicine Journal /Middle East Journal of Family Medicine” This study revealed low knowledge about corneal donation in the Aseer region, Saudi Arabia, with a significant association between willingness to donate and having a good level of knowledge.
36 citations
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March 2011 in “Stem Cell Reviews and Reports”
1 citations
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September 2021 in “Physiology News” The abstract contains only graphic design specifications and reports no new research findings.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
36 citations
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July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.
January 2013 in “International Journal of Biological Sciences” This study demonstrates that the CRISPR-Cas9 system can be used to successfully edit genes in large mammals, such as Cashmere goats, creating a valuable model for research on EDAR gene-related phenotypes.
9 citations
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July 2007 in “Circulation Research” This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.
In an outpatient cardiology center, this study found that introducing the AHA/ACC ABI screening protocol significantly increased the frequency of ABI ordering by 31.6% for symptomatic patients.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
July 2023 in “JAAD Case Reports”
30 citations
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March 2019 in “Archives animal breeding/Archiv für Tierzucht” In this study, variation in the KRTAP15-1 gene in goats was linked to changes in cashmere fibre diameter, with specific variants showing dominant or recessive effects.
4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
109 citations
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February 2018 in “CB/Current biology” This study concluded that the receptor-like kinase ERULUS, regulated by auxin, is crucial for modulating cell wall composition and pectin dynamics during root hair growth in Arabidopsis.
1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.
6 citations
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March 1990 in “The American journal of cosmetic surgery” 3 citations
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October 2021 in “Turkish Journal Of Neurology” This study identifies novel genetic variants in the NOTCH3 and HTRA1 genes associated with CADASIL and CARASIL, highlighting their potential in supporting clinical diagnosis and informing treatment strategies.
88 citations
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August 1998 in “Carcinogenesis” This study found that overexpression of ornithine decarboxylase and activated Ha-ras together led to a high rate of tumor development in a mouse model without additional carcinogens.
January 2020 in “Turk Dermatoloji Dergisi” In this study, androgenetic alopecia, diagonal earlobe crease, and hairy ear were more frequently observed in men with coronary artery disease compared to controls.
104 citations
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October 2016 in “PLoS ONE” This study found that CRISPR/Cas9-mediated disruption of the FGF5 gene in goats increased hair follicle numbers and fiber length, suggesting more cashmere production could be achieved.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
12 citations
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December 2020 in “Archives animal breeding/Archiv für Tierzucht” This study found that EDA and EDAR are expressed throughout cashmere goat fetal development and play a critical role in hair follicle formation by influencing gene expression in fibroblasts and epithelial cells.
4 citations
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January 2021 in “Journal of Clinical Medical Research” This review provides an in-depth analysis of the structure and function of c-kit activation, and its role in both normal physiological and pathological conditions, with no new research findings reported.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
41 citations
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April 2016 in “Journal of experimental botany” This research suggests that the barley protein RACB supports cell polarity functions rather than interfering with immunity, as it aids nucleus positioning during fungal attack rather than affecting early immune responses.
2 citations
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August 2022 in “Animals” In this study, a specific genetic variant of KRTAP6-2 in Longdong cashmere goats was associated with finer cashmere fiber diameter, suggesting its potential as a molecular marker for breeding improvements.
101 citations
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August 2008 in “Mayo Clinic Proceedings” This article reviews current understanding and management of peripheral arterial disease and reports no new results; the authors emphasize early diagnosis and lifestyle modification for better outcomes.