| An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation. | An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation.
Zaka A, Shahzad S, Rao HZ, Kanwal S, Gul A, Basit S. | 01/22/2022 |
| the whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene. | Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
Umair M, Seidel H, Ahmed I, Ullah A, Haack TB, Alhaddad B, Jan A, Rafique A, Strom TM, Ahmad F, Meitinger T, Ahmad W. | 08/4/2018 |
| The molecular mechanism underlying the development of ventricular septal defect induced by the EVC c.343C>G mutation may be due to a reduction in the anti-apoptotic and proliferative abilities of cardiomyocytes via downregulation of Hh pathway activity. | Molecular mechanisms of Ellis‑van Creveld gene variations in ventricular septal defect.
Liu F, Liu X, Xu Z, Yuan P, Zhou Q, Jin J, Yan X, Xu Z, Cao Q, Yu J, Cheng Y, Wan R, Hong K., Free PMC Article | 08/4/2018 |
| Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome. In all cases, molecular analysis by Sanger sequencing identified the same homozygous mutation in exon 12 of EVC, c.1678G>T, which leads to a premature stop codon. | Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.
Ibarra-Ramirez M, Campos-Acevedo LD, Lugo-Trampe J, Martínez-Garza LE, Martinez-Glez V, Valencia-Benitez M, Lapunzina P, Ruiz-Peréz V., Free PMC Article | 01/13/2018 |
| we detected two novel nonsense mutations and a partial deletion of EVC/EVC2 in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders. | Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
Nguyen TQ, Saitoh M, Trinh HT, Doan NM, Mizuno Y, Seki M, Sato Y, Ogawa S, Mizuguchi M. | 02/18/2017 |
| sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families. | Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.
Aziz A, Raza SI, Ali S, Ahmad W. | 10/1/2016 |
| Sequencing of both EVC and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively. | Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.
Shi L, Luo C, Ahmed MK, Attaie AB, Ye X. | 08/13/2016 |
| The epigenetically deregulated EVC appears to play an important role for hedgehog activation. | Epigenetic deregulation of Ellis Van Creveld confers robust Hedgehog signaling in adult T-cell leukemia.
Takahashi R, Yamagishi M, Nakano K, Yamochi T, Yamochi T, Fujikawa D, Nakashima M, Tanaka Y, Uchimaru K, Utsunomiya A, Watanabe T., Free PMC Article | 11/22/2014 |
| Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects. | Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.
Chen CP, Su YN, Hsu CY, Chern SR, Tsai FJ, Wu PC, Chen PT, Wang W. | 04/30/2011 |
| We herein report on the first family from Pakistan with a large number of individuals affected by EVC. DNA sequence analysis led to the identification of the fifth missense mutation in the EVC gene | A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
Umm-E-Kalsoom, Wasif N, Tariq M, Ahmad W. | 10/23/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| STK32B and EVC yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. | Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH, Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH., Free PMC Articles: PMC2874614, PMC2874614 | 09/13/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in keeping with its dominant effect. | Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL. | 02/8/2010 |
| EVC and LBN play roles in cardiovascular development and disease. | Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.
Sund KL, Roelker S, Ramachandran V, Durbin L, Benson DW., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (4) articlesMaternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC. Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH, Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Common variations in 4p locus are related to male completed suicide.
Must A, Kõks S, Vasar E, Tasa G, Lang A, Maron E, Väli M. | 02/11/2009 |
| EVC mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical Ellis van Creveld syndrome | Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
Ulucan H, Gül D, Sapp JC, Cockerham J, Johnston JJ, Biesecker LG., Free PMC Article | 01/21/2010 |
| In a consanguineous pedigree diagnosed with EvC and borderline intelligence, a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between LINE-1 elements, was detected | Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.
Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL. | 01/21/2010 |
| CRMP1 and EVC genes are located near WFS1, the Wolfram syndrome type 1 gene. | Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes.
Sivakumaran TA, Lesperance MM. | 01/21/2010 |