2 citations
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June 2021 in “Research Square (Research Square)” This study identified a novel missense mutation in the FGF5 gene associated with the longhair phenotype in about 3% of Maine Coon cats, suggesting it may be a breed-specific variant.
1 citations
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September 2023 in “Clinical, cosmetic and investigational dermatology” This genome-wide association study identified several genetic markers, including specific SNPs and HLA genotypes, associated with alopecia areata susceptibility in the Taiwanese population, highlighting key pathways involved in immune response and offering insights into the genetic origins of this autoimmune condition.
1 citations
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March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
March 2026 in “Egyptian Journal of Forensic Sciences” This review critically examines Forensic DNA Phenotyping, highlighting high accuracy in predicting certain traits but also legal and ethical challenges, particularly around regulatory fragmentation and issues of genetic privacy.
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.
April 2024 in “Cell death and differentiation” This study discusses how different modes of regulated cell death in keratinocytes affect skin stem cell niches, and their role in skin inflammation, injury repair, and cancer, based on findings from human dermatological conditions and experimental mouse models.
June 2023 in “Livestock studies” This review highlights the significance of animal fibers, examining the molecular mechanisms influencing hair follicle development and their impact on fiber quality and quantity, with a focus on studies involving Angora and cashmere goats.
April 2023 in “Medizinische Genetik” This review summarizes recent genetic findings in alopecia areata research and their implications for developing new treatments, without reporting new clinical results.
July 2022 in “International journal of KIU” This article outlines the scope, publication standards, and authorship responsibilities of the International Journal of KIU, but reports no new research results.
This study found that Nubian ibex have developed genetic adaptations in response to their desert environment, including enhanced skin barrier, DNA repair, viral response, and metabolism of toxic compounds.
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.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
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.
13 citations
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September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
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.
1 citations
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January 2017 in “Springer eBooks” This review discusses recent advances in understanding alopecia areata's disease mechanisms and highlights JAK molecules as promising therapeutic targets, but reports no new clinical results; controlled trials are needed.
506 citations
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January 2012 in “Molecular and Cellular Endocrinology” This review details the expression and diverse functions of melatonin receptors in non-neural tissues and reports no new clinical findings, emphasizing their potential as therapeutic targets across various physiological and pathological processes.
260 citations
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July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
133 citations
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February 2017 in “PLoS Genetics” In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.
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.
106 citations
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November 2014 in “Cell Stem Cell” This review discusses advanced techniques for investigating stem cell fate at the single-cell level, including lineage tracing, time-lapse imaging, and molecular profiling, but reports no new research results.
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.
87 citations
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May 2012 in “PLOS Genetics” This study found that early-onset androgenetic alopecia in individuals of European ancestry is significantly associated with increased odds of Parkinson's disease and is influenced by specific genetic loci, including some linked to reduced fertility.
64 citations
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March 2017 in “Nature communications” This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.
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.
47 citations
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January 2013 in “International Journal of Cosmetic Science” This review explores genetic and lifestyle factors influencing hair diversity and reports no new findings, calling attention to the potential for future discoveries in genetic and epigenetic research.
46 citations
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April 2016 in “Journal of Investigative Dermatology” This study suggests that down-regulation of vasculature-related genes in dermal papilla cells from balding scalps might contribute to the development of androgenetic alopecia.
41 citations
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September 2012 in “Cellular and Molecular Life Sciences” This review summarizes the current understanding of microRNAs in skin biology, highlighting their roles in processes like wound-healing and aging, without presenting any new experimental results.
28 citations
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July 2017 in “Journal of Endocrinological Investigation” This study suggests that early onset androgenetic alopecia in men may indicate a male PCOS equivalent, possibly leading to higher risks of metabolic and cardiovascular disorders later in life.
26 citations
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May 2012 in “Cellular and Molecular Life Sciences” This review discusses the structure, expression, regulation, and potential roles of NcoA4 in cancer and other pathologies, reporting no new experimental findings.