2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
2 citations
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July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
September 2022 in “JAMC. Journal of Ayub Medical College, Abbotabad, Pakistan/Journal of Ayub Medical College” This case study reports that zinc supplementation significantly improved the symptoms of Acrodermatitis Enteropathica in a 12-year-old boy, emphasizing the importance of early diagnosis and treatment compliance.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
94 citations
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July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
51 citations
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January 2012 in “Annals of Dermatology” This review discusses characteristics of androgenetic alopecia in Asian patients and includes algorithmic management guidelines, but reports no new clinical findings.
47 citations
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December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
44 citations
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January 2005 in “Dermatology” This article reviews the clinical and diagnostic features of hair shaft disorders, emphasizing the role of structured patient assessments and the avoidance of hair trauma, but reports no new results.
38 citations
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September 2021 in “Signal Transduction and Targeted Therapy” This review discusses genetic factors contributing to susceptibility and outcomes in COVID-19, including ACE, ACE2, TMPRSS2 variants, HLA genotype, and ABO blood group, but reports no new experimental results.
33 citations
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March 2006 in “Seminars in cutaneous medicine and surgery” This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.
24 citations
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October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
13 citations
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November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
12 citations
,
October 2004 in “Experimental Gerontology” This review summarizes how common polymorphisms in androgen and estrogen receptor genes may influence aging-related symptoms and diseases in men, but it reports no new clinical results.
7 citations
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September 2024 in “BMC Genomics” In this study, whole-genome sequencing of Lanping black-boned sheep identified ERBB4 and ROR1 genes as potentially important in their distinctive hyperpigmentation, enhancing understanding of their genetic evolution from Lanping normal sheep.
5 citations
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January 2024 in “The International Journal of Developmental Biology” This article reviews the diversity of lymphatic endothelial cells, related gene targeting tools, and protocols in mouse models but presents no new experimental findings.
4 citations
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February 2025 in “BMC Genomics” This study identified 71 SNPs linked to black wool traits in Qira sheep and found that specific mutations in the TYRP1 gene significantly correlate with coat color variations, providing insights for their genetic selection and conservation.
2 citations
,
September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
October 2025 in “Communications Medicine” This study found that using a combination of genotypic and primarily phenotypic reanalysis significantly enhances the accuracy of molecular diagnoses in patients suspected of having monogenic diabetes.
October 2025 in “Animal Bioscience” This review summarizes the application of genome wide association studies and selection signature analyses in sheep and goat breeding in China, highlighting genomic regions that influence traits like reproductive performance and body size.
March 2024 in “Research Square (Research Square)” This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.
November 2022 in “Gigascience” This study identified a 582-bp deletion upstream of LHX2 in cashmere goats, likely linked to hair follicle development and cashmere production, providing insights into genetic factors in cashmere trait selection.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
In this study, a clear pattern of selective sweep was observed for the SLC24A5 gene, with high linkage disequilibrium and low haplotype diversity, but no clear correlation with UV radiation intensity was found.
April 2015 in “Andrology” This special issue contains abstracts from the ASA 40th Annual Meeting, providing an overview of various studies without reporting new primary results.
92 citations
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December 2016 in “Scientific Reports” This study identified genomic regions and candidate genes that may contribute to phenotypic diversity in coat color, body size, cashmere traits, and high-altitude adaptation in domesticated goat breeds.