Varaico: Literature-Extracted Genetic Variants

Gene:NECTIN1
Variant:p.W185*
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NECTIN1

NM_002855.5:p.W185*

Associated Papers

Genetic associations and parent-of-origin effects of PVRL1 in non-syndromic cleft lip with or without cleft palate across multiple ethnic populations.

Park JW et al.

Epidemiology and Health, 2024

Genetic Factors in Nonsyndromic Orofacial Clefts.

Khan MI et al.

Global Medical Genetics, 2020

Disruption of the nectin-afadin complex recapitulates features of the human cleft lip/palate syndrome CLPED1.

Lough KJ et al.

Development (cambridge, England), 2020

Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate.

Saleem K et al.

Heliyon, 2019

MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.

Gajera M et al.

Bmc Medical Genomics, 2019

31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 3_Human_Cleft_Lip__Table_S3__Significant_R2.xlsx › Single_Gene_Significant

Identification of Novel Variants in the PVRL1 Gene in Patients With Nonsyndromic Cleft Lip With or Without Cleft Palate.

Oner DA et al.

Genetic Testing and Molecular Biomarkers, 2016

Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

Yoshida K et al.

The Journal of Dermatology, 2015

Mutation analysis of PVRL1 in patients with non-syndromic cleft of the lip and/or palate in Guangdong.

Shu SY et al.

Genetics and Molecular Research : Gmr, 2015

Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population.

Paranaíba LM et al.

Medicina Oral, Patologia Oral Y Cirugia Bucal, 2013

PVRL1 as a candidate gene for nonsyndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in southern Han Chinese patients.

Cheng HQ et al.

Dna and Cell Biology, 2012

Genetics of nonsyndromic orofacial clefts.

Rahimov F et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2012

A comprehensive review of the genetic basis of cleft lip and palate.

Kohli SS et al.

Journal of Oral and Maxillofacial Pathology : Jomfp, 2012

Do cell junction protein mutations cause an airway phenotype in mice or humans?

Chang EH et al.

American Journal of Respiratory Cell and Molecular Biology, 2011

Association analysis of the poliovirus receptor related-2 gene in patients with nonsyndromic cleft lip with or without cleft palate.

Chengle H et al.

Dna and Cell Biology, 2010

Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association study.

Scapoli L et al.

European Journal of Oral Sciences, 2008

Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate.

Tongkobpetch S et al.

International Journal of Oral and Maxillofacial Surgery, 2008

Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2.

Pezzetti F et al.

European Journal of Human Genetics : Ejhg, 2007

PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations.

Avila JR et al.

American Journal of Medical Genetics. Part A, 2006

High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.

Park JW et al.

Journal of Medical Genetics, 2006

A study of PVRL1 mutations for non-syndromic cleft lip and/or palate among Taiwanese patients.

Tseng YT et al.

International Journal of Oral and Maxillofacial Surgery, 2006

Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.

Scapoli L et al.

Annals of Human Genetics, 2006

PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.

Ichikawa E et al.

Journal of Human Genetics, 2006

Investigation of the W185X nonsense mutation of PVRL1 gene in Italian nonsyndromic cleft lip and palate patients.

Scapoli L et al.

American Journal of Medical Genetics. Part A, 2004

Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts.

Stanier P et al.

Human Molecular Genetics, 2004

14722155 (PubMed )
Supplement: ddh052.pdf

The complex genetics of cleft lip and palate.

Cobourne MT

European Journal of Orthodontics, 2004

Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.

Sözen MA et al.

Nature Genetics, 2001

Current concepts in genetics of nonsyndromic clefts.

Murthy J et al.

Indian Journal of Plastic Surgery : Official Publication of the Association of Plastic Surgeons of India, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."