694 citations
,
April 2000 in “Nature genetics” This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development.
133 citations
,
February 2019 in “PLoS Biology” This research found that feather pattern formation in birds is regulated by a mechanochemical system involving fibroblast growth factor and bone morphogenetic protein signaling, which is altered in the flightless emu and ostrich.
January 2024 in “Brazilian Journal of Veterinary Pathology” In this case report, veterinarians observed a 16-year-old mare with symptoms including chronic weight loss, pruritus, muscle atrophy, and lameness, which gradually progressed to neurological issues despite initial treatment.
1 citations
,
December 2022 in “BMC Genomics” This study found that the Msx2 gene may regulate goose feather follicle development by influencing cell viability and gene expression, with potential implications for improving down production.
26 citations
,
December 2003 in “Experimental Dermatology” In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.
3 citations
,
August 2023 in “Genes” This review summarizes current research on molecular pathways, such as Wnt and Notch, that regulate feather follicle development in yellow-feathered broilers, highlighting their potential impact on poultry carcass quality and suggesting areas for future study.
21 citations
,
November 1980 in “PubMed” This study describes a newly identified mite species, Demodex zalophi, found on captive sea lions and highlights its unique traits, including being the first of its kind described in marine mammals.
In this study on Drosophila embryos, researchers observed that the Slit/Robo signaling pathway is crucial for the collective migration and proper positioning of Posterior Signaling Center cells within the hematopoietic niche, highlighting its role in niche assembly and cellular organization.
7 citations
,
January 1988 3 citations
,
January 1994 30 citations
,
January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
December 2014 in “Bangladesh Journal of Veterinary Medicine” In this study, mixed lice infestations and their associated skin changes were observed in the Egyptian lesser blind mole rat, marking the first report of such findings in this species.
January 2026 in “Cosmoderma” In this clinical case study, a 9-year-old girl was diagnosed with monilethrix, a hereditary hair shaft disorder characterized by weak, beaded hair, with management focusing on minimizing hair trauma.
This article discusses the role of epimorphin as a key morphoregulator for various epithelial cells in tubulogenesis and reports no experimental results on its signaling pathways.
35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
January 2026 in “MDPI (MDPI AG)” This study revealed that heterozygous mice with the hairy ear mutation exhibited significant gene expression changes related to hair growth, such as upregulation of hair keratin and keratin-associated proteins, shedding light on the Hoxc gene cluster's role in this phenotype.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” This study identified a new mouse mutation associated with noninflammatory proliferative skin disease and hair abnormalities, drawing parallels to human conditions like Netherton's syndrome and monilethrix.
1 citations
,
January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” This case report describes a 10-year-old girl with monilethrix, detailing hereditary autosomal dominant traits and distinctive nodular hair shaft abnormalities observed in her family through clinical examination and microscopic analysis.
6 citations
,
January 2011 in “European Journal of Dermatology” This article discusses monilethrix, a rare human hair dysplasia caused by mutations in hair keratins, but reports no new clinical findings.
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.
November 2023 in “Biology” This study investigated m6A RNA modification in hair follicle development, finding that Hycole rabbits displayed longer hair, higher primary hair follicle ratios, and thicker skin compared to Rex rabbits, while also identifying key differential genes and pathways involved in hair growth.
1 citations
,
June 2016 in “Medicina” This article reviews monilethrix, a rare genetic hair disorder causing brittle hair and alopecia, and emphasizes the need for clinical diagnosis and characteristic tricoscopic findings.
1 citations
,
October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
1 citations
,
October 2023 in “Biology” In this study, researchers observed that fasting-induced molting in laying hens led to increased thyroid hormones, which may regulate feather molting by affecting hair follicle growth through specific signaling pathways, highlighting molecular changes during induced molting.
7 citations
,
January 2008 in “Indian Journal of Dermatology” This review discusses the clinical manifestations and genetic basis of pigmentary mosaicism, highlighting its varied phenotypic expressions, but reports no new clinical results.
2 citations
,
May 1979 in “PubMed” This report describes four cases of monilethrix in children and concludes that periodic inhibition of keratin synthesis, not a metabolic defect, may explain the hair abnormality.
June 2010 in “Chinese Journal of Dermatology” This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.
January 2008 in “Memorial University Research Repository (Memorial University)” This study found that the NHD domain, but not the PHD domain, of hPygo2 is crucial for Wnt-independent growth of ovarian cancer cells, and identified a key interaction with Treacle protein involved in ribosomal biogenesis.