99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
5 citations
,
March 2017 in “Gene” This study found that the transcription factor CAP1 negatively regulates KRT83 expression in Tan sheep, possibly influencing their curly hair phenotype.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
65 citations
,
September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.
68 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.
467 citations
,
October 2014 in “European Journal of Endocrinology” This paper reviews the diagnostic criteria, etiological factors, and treatment approaches for PCOS, highlighting the importance of considering metabolic issues such as insulin resistance and obesity, but reports no new findings.
30 citations
,
October 2020 in “Frontiers in Plant Science” In this study, the combination of arsenic toxicity and hypoxia in Arabidopsis thaliana altered root development through stress-specific root growth phenotypes and changes in phosphate starvation response, energy metabolism, and redox signaling.
22 citations
,
October 2004 in “Journal of Investigative Dermatology” This study identified the rough coat mutation in mice, but found that LOXL is not the causal gene, although its downregulation might contribute to related phenotypic changes.
15 citations
,
April 2003 in “Journal of Dermatological Science” This study found no significant associations between the polymorphisms of SRD5A1 and SRD5A2 genes and androgenetic alopecia, clinical types of baldness, or response to finasteride in Koreans.
3 citations
,
July 2020 in “International Journal of Molecular Sciences” This study reported that molecules from Zebrafish embryo cell differentiation can counteract neurodegeneration, regenerate tissues, and potentially reverse hair follicle damage in androgenetic alopecia.
1 citations
,
January 2024 in “Nature communications” This study found that stimulating toll-like receptor 5 via mucosal delivery of a flagellin-containing fusion protein effectively extended lifespan and enhanced healthspan in mice, including improved bone density and cognitive capacity.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
16 citations
,
February 2018 in “BMC Genomics” This paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.
2 citations
,
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.
383 citations
,
February 2011 in “Nature Reviews Genetics” This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.
122 citations
,
June 2002 in “Genes & Development” This study found that K17 is crucial for the structural integrity and survival of hair-producing cells, with K17 null mice developing alopecia due to hair fragility and follicular alterations.
48 citations
,
May 2015 in “PLOS ONE” This study found that a genetic test using 5 to 20 SNPs can predict male pattern baldness with variable accuracy in European men, especially those aged 50 and older.
33 citations
,
January 2018 in “International Journal of Biological Sciences” This study demonstrates the use of the CRISPR-Cas9 system to successfully edit the EDAR gene in Cashmere goats, resulting in goats with distinct hair follicle characteristics.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
24 citations
,
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.
19 citations
,
November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
16 citations
,
March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers observed that a noncanonical mechanism involving the γ-secretase-dependent, RBPj-independent Notch intracellular domain improves survival in Msx2-Cre mice by delaying hair follicle destruction and reducing disease severity.
13 citations
,
November 2019 in “Scientific reports” This study found that inhibiting 5α-reductase in molluscs provokes a specific shell morphology, suggesting gastropods might have unique 5α-reductase substrates absent in vertebrates.
11 citations
,
July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study reports a novel TRbeta gene mutation associated with resistance to thyroid hormone syndrome, which may contribute to various forms of alopecia in the affected family members.
3 citations
,
May 2018 in “Experimental Dermatology” In this study, the researchers reported that patient impacts and symptoms of hidradenitis suppurativa, as assessed by HSIA and HSSA measures, are associated with clinical characteristics such as the number of abscesses and inflammatory nodules.
December 2025 in “Scientific Reports” In this study, researchers observed that DHEA-induced PCOS rats experienced significant changes in gut microbiota and metabolic profiles, particularly affecting steroid and lipid metabolism, suggesting the gut-ovary axis may play a role in the pathogenesis of PCOS.
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.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.