97 citations
,
March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
5 citations
,
December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
4 citations
,
January 2023 in “Skin health and disease” This study shows that in a mouse model of Alopecia Areata, selective JAK1 inhibition facilitated hair regrowth and inflammation resolution while potentially offering a better safety profile compared to pan-JAK inhibition.
1 citations
,
January 2023 in “Frontiers in genetics” This study identified specific genetic markers related to wool quality in Rambouillet sheep, which may aid breeders in making informed selection and breeding decisions for improved fine wool production.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
July 2023 in “New phytologist” This research identified a genetic mutation in Brachypodium distachyon that initially allows root hair initiation but fails to elongate them, while also affecting root growth and nitrate sensitivity; the mutation is linked to a previously uncharacterized cyclin-dependent kinase-like gene.
89 citations
,
April 2023 in “Forensic Science International Genetics” This review summarizes advancements in forensic DNA phenotyping for appearance, ancestry, and age prediction from crime scene samples, reporting no new research findings but highlighting areas needing further research and validation.
71 citations
,
February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
19 citations
,
January 2023 in “Genes” This study identified genomic regions and genes associated with wool, live weight, body condition, and reproduction traits in Uruguayan Merino sheep, highlighting potential genetic factors influencing these characteristics.
15 citations
,
April 2024 in “Animals” This study examined cashmere goats using whole-genome resequencing data and found that the Inner Mongolia cashmere goat had the lowest inbreeding coefficient, with genes identified linked to fiber, fertility, disease resistance, and growth, which can inform future breeding efforts.
13 citations
,
April 2024 in “International Journal of Molecular Sciences” This literature review highlights the importance of understanding the mechanisms behind the gradual mosaic loss of the Y chromosome (mLOY) in men, its association with various health conditions like cardiovascular diseases and cancer, and its potential as a marker for age inference.
8 citations
,
November 2019 in “Tissue Engineering Part A” In this study, collagen scaffolds functionalized with heparin and growth factors significantly enhanced long-term skin regeneration and growth in a sheep model of fetal skin defect, suggesting potential for prenatal spina bifida treatment.
5 citations
,
November 2022 in “Animal Genetics” This review discusses selection signatures and selective sweeps in fiber-producing animals and recommends further genomic investigations to identify genes related to important fiber traits, without providing new results.
3 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case study reports a rare instance of RC11 associated with precocious puberty, severe hyperandrogenism, insulin resistance, and type 2 diabetes, suggesting a possible link to 11q-syndrome.
1 citations
,
October 2025 in “BMC Genomics” This study found that both natural and environmental selection have significantly influenced the goat genome, revealing genetic loci tied to adaptation, fitness, and productive traits, more so than artificial selection, across various goat populations.
1 citations
,
May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
1 citations
,
February 2023 in “Pharmaceutics” This article reviews cell proteomic footprinting technology and its application in improving the authentication and quality control of cell-based immunotherapeutics, without providing new clinical results.
1 citations
,
September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
2 citations
,
December 2020 in “Frontiers in genetics” In this study, the researchers identified the SPEF2 and PRLR genes as potential candidates associated with feather rate phenotypes in Shouguang chickens through combined genome-wide association and differential expression analyses.
224 citations
,
February 2013 in “The Journal of clinical investigation/The journal of clinical investigation” This study identifies SOX9 as a critical downstream effector of ERG in TMPRSS2:ERG fusion-positive prostate cancer, indicating its role in tumor invasion and growth.
153 citations
,
June 2015 in “GenomeBiology.com” This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.
136 citations
,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified mutations in the FGF5 gene as a cause of extreme eyelash growth in Pakistani families, highlighting a potential target for regulating eyelash growth.
106 citations
,
January 2013 in “Clinical and Developmental Immunology” This review discusses the pathogenesis of alopecia areata, highlighting the role of immune privilege collapse in hair follicles but reports no clinical results.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
97 citations
,
May 2019 in “Frontiers in Cell and Developmental Biology” This review examines the interaction between the extracellular matrix and immune cells in skin diseases and evaluates advanced therapies that target involved molecular mechanisms, reporting no new clinical findings.
92 citations
,
February 2023 in “Antibiotics” This review discusses advances in nanomaterial-based wound dressings for infection control, highlighting their ability to detect and treat bacterial infections effectively, but reports no new clinical results.
73 citations
,
December 2015 in “Nature Genetics” This study found that the Dun camouflage color in horses is due to TBX3 expression, which causes uneven pigment deposition, whereas non-dun coat colors result from regulatory mutations affecting TBX3 expression.
63 citations
,
November 2012 in “Journal of Cellular Biochemistry” This paper discusses the role of Runx1 in epithelial biology and pathology, highlighting its dual function as a tumor promoter and suppressor in different contexts, and reports no new experimental findings.