ArticleProceedings of the National Academy of Sciences of the United States of America2002
Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 74 citations in OpenAlex.
- Neural crest-specific disruption of Evc2 provides an animal model to study the temporomandibular joint development and homeostasis in response to jaw loading.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- Functional impact of splicing variants in the elaboration of complex traits in cattle.Nature communications · 2025Article
- Elevated WNT signaling and compromised Hedgehog signaling due toFrontiers in dental medicine · 2022Article
- Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models.Journal of developmental biology · 2020Review
- New Insights Into Cranial Synchondrosis Development: A Mini Review.Frontiers in cell and developmental biology · 2020Review
- The Role of Ellis-Van Creveld 2(EVC2) in Mice During Cranial Bone Development.Anatomical record (Hoboken, N.J. : 2007) · 2018Article
- A Ciliary Protein EVC2/LIMBIN Plays a Critical Role in the Skull Base for Mid-Facial Development.Frontiers in physiology · 2018Article
- Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.Journal of dental research · 2017Article
- Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.PLoS genetics · 2016Article
- Developmental Regulation of the Growth Plate and Cranial Synchondrosis.Journal of dental research · 2016Review
- Expression of Evc2 in craniofacial tissues and craniofacial bone defects in Evc2 knockout mouse.Archives of oral biology · 2016Article
- Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development.Anatomical record (Hoboken, N.J. : 2007) · 2016Article
- Molecular characterization and combined genotype association study of bovine cluster of differentiation 14 gene with clinical mastitis in crossbred dairy cattle.Veterinary world · 2016Article
- A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle.Genetics, selection, evolution : GSE · 2016Article
- A Review of Selected Genes with Known Effects on Performance and Health of Cattle.Frontiers in veterinary science · 2016Review
- Generation of Evc2/Limbin global and conditional KO mice and its roles during mineralized tissue formation.Genesis (New York, N.Y. : 2000) · 2015Article
- Mutation discovery for Mendelian traits in non-laboratory animals: a review of achievements up to 2012.Animal genetics · 2014Review
- Article
- A Smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.Developmental cell · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
Abstract
Chondrodysplastic dwarfism in Japanese brown cattle is an autosomal recessive disorder characterized by short limbs. Previously, we mapped the locus responsible for the disease on the distal end of bovine chromosome 6. Here, we narrowed the critical region to approximately 2 cM by using linkage analysis, constructed a BAC and YAC contig covering this region, and identified a gene, LIMBIN (LBN), that possessed disease-specific mutations in the affected calves. One mutation was a single nucleotide substitution leading to an activation of a cryptic splicing donor site and the other was a one-base deletion resulting in a frameshift mutation. Strong expression of the Lbn gene was observed in limb buds of developing mouse embryos and in proliferating chondrocytes and bone-forming osteoblasts in long bones. These findings indicate that LBN is responsible for bovine chondrodysplastic dwarfism and has a critical role in a skeletal development.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.