32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
28 citations
,
October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
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.
23 citations
,
December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
23 citations
,
May 2020 in “Cell Death and Disease” This study generated FGF5-knockout Dorper sheep using the CRISPR/Cas9 system, resulting in significantly increased fine-wool and active hair-follicle density, and explored downstream signaling pathways for potential applications in androgen alopecia treatment.
23 citations
,
February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
22 citations
,
December 2016 in “PloS one” In this study, researchers found that the EDMTFH protein is present in specific layers of the chicken embryo skin and feathers, suggesting its role in feather mechanics and development.
20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
20 citations
,
January 2017 in “Scientific reports” This study found that cetaceans have adapted their fibroblast growth factors to assist in low bone density, hypoxia tolerance, and the development of rigid flippers, reflecting significant evolutionary changes for aquatic life.
14 citations
,
January 2008 in “Gene therapy” Gene therapy shows promise for enhancing physical traits but faces ethical, safety, and regulatory challenges.
13 citations
,
July 2012 in “Pigment Cell & Melanoma Research” In this study, researchers identified a new dominant mutation in Hairless mice, called Pied, resulting from a deletion in the Adam10 gene, which causes freckle-like skin pigmentation by inhibiting melanocyte expansion.
11 citations
,
December 2014 in “The American journal of pathology” This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
7 citations
,
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
,
May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
3 citations
,
February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
2 citations
,
April 2025 in “Frontiers in Genetics” This study investigated the genetic basis of coat color variation in cattle using skin transcriptome and whole-genome analyses, identifying the ASIP gene as a significant determinant that is differentially expressed and under strong positive selection in black and brown cattle breeds.
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.
2 citations
,
April 2010 in “The Open Dermatology Journal” This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.
1 citations
,
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that ulcerative colitis is associated with diverse molecular changes and chronic inflammation, with some biomarker levels partially recovering during remission.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
1 citations
,
January 2011 in “Springer eBooks” Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
December 2025 in “Frontiers in Medicine” This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.
October 2025 in “HAL (Le Centre pour la Communication Scientifique Directe)” This research observed that, in domestic cats like Maine Coon and Rex breeds, a "piebald" coat color pattern is likely influenced by the Silver locus, although the specific mutations involved are yet to be published.
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.
This study found that lateral root formation in plants in response to L. bicolor volatiles involves complex signaling processes, potentially including unknown proteins, CRKs, and ABA pathways.
This reference list, part of a book by Alex Gough, Alison Thomas, and Dan O'Neill, compiles citations from veterinary journals on various canine and feline health issues, but reports no new research findings.
January 2019 in “Springer Reference Medizin” This article reviews the role of factor Xa inhibitors like Rivaroxaban and suggests they may eventually replace vitamin K antagonists, but their side effects require further clarification.
October 2018 in “InTech eBooks” This research suggests that mouse mutants and genomics can help study hair biology and epithelial differentiation by focusing on the role of the Foxn1 gene.