Literature DB >> 26258020

Genomic expression in non syndromic cleft lip and palate patients: A review.

D Mehrotra1.   

Abstract

Cleft lip and palate are common congenital anomalies with significant medical, psychological, social, and economic ramifications, affecting one in seven hundred live births. Genetic causes of non syndromic cleft lip and/or palate (NSCLP) include chromosomal rearrangements, genetic susceptibility to teratogenic exposures, and complex genetic contributions of multiple genes. Development of the orofacial clefts in an individual will depend on the interaction of several moderately effecting genes with environmental factors. Several candidate genes have been genotyped in different population types, using case parent trio or case control design; also genes have been sequenced and SNPs have been reported. Quantitative and molecular analysis have shown linkage and association studies to be more relevant. Recent literature search shows genome wide association studies using microarray. The aim of this paper was to review the approaches to identify genes associated with NSCLP and to analyze their differential expressions. Although no major gene has been confirmed, a lot of research is ongoing to provide an understanding of the pathophysiology of the orofacial clefts.

Entities:  

Keywords:  Cleft lip; Cleft palate; Genes; Non syndromic

Year:  2015        PMID: 26258020      PMCID: PMC4523586          DOI: 10.1016/j.jobcr.2015.03.003

Source DB:  PubMed          Journal:  J Oral Biol Craniofac Res        ISSN: 2212-4268


  62 in total

1.  TGF-beta3-induced palatogenesis requires matrix metalloproteinases.

Authors:  L Blavier; A Lazaryev; J Groffen; N Heisterkamp; Y A DeClerck; V Kaartinen
Journal:  Mol Biol Cell       Date:  2001-05       Impact factor: 4.138

Review 2.  Unraveling human cleft lip and palate research.

Authors:  A R Vieira
Journal:  J Dent Res       Date:  2008-02       Impact factor: 6.116

3.  Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.

Authors:  Elisabeth Mangold; Kerstin U Ludwig; Stefanie Birnbaum; Carlotta Baluardo; Melissa Ferrian; Stefan Herms; Heiko Reutter; Nilma Almeida de Assis; Taofik Al Chawa; Manuel Mattheisen; Michael Steffens; Sandra Barth; Nadine Kluck; Anna Paul; Jessica Becker; Carola Lauster; Gül Schmidt; Bert Braumann; Martin Scheer; Rudolf H Reich; Alexander Hemprich; Simone Pötzsch; Bettina Blaumeiser; Susanne Moebus; Michael Krawczak; Stefan Schreiber; Thomas Meitinger; Hans-Erich Wichmann; Regine P Steegers-Theunissen; Franz-Josef Kramer; Sven Cichon; Peter Propping; Thomas F Wienker; Michael Knapp; Michele Rubini; Peter A Mossey; Per Hoffmann; Markus M Nöthen
Journal:  Nat Genet       Date:  2009-12-20       Impact factor: 38.330

4.  Primary dentition status and treatment needs of children with cleft lip and/or palate.

Authors:  Anil V Ankola; L Nagesh; P Hegde; G N Karibasappa
Journal:  J Indian Soc Pedod Prev Dent       Date:  2005-06

5.  Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.

Authors:  Jae Woong Sull; Kung-Yee Liang; Jacqueline B Hetmanski; Margaret Daniele Fallin; Roxann G Ingersoll; Jiwan Park; Yah-Huei Wu-Chou; Philip K Chen; Samuel S Chong; Felicia Cheah; Vincent Yeow; Beyoung Yun Park; Sun Ha Jee; Ethylin Wang Jabs; Richard Redett; Euiju Jung; Ingo Ruczinski; Alan F Scott; Terri H Beaty
Journal:  Genet Epidemiol       Date:  2008-09       Impact factor: 2.135

6.  A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

Authors:  Giovanni Battista Ferrero; Giuseppina Baldassarre; Emanuele Panza; Mariella Valenzise; Tommaso Pippucci; Alessandro Mussa; Ernesto Pepe; Marco Seri; Margherita Cirillo Silengo
Journal:  Eur J Pediatr       Date:  2009-06-18       Impact factor: 3.183

7.  Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families.

Authors:  J Stein; J B Mulliken; S Stal; D L Gasser; S Malcolm; R Winter; S H Blanton; C Amos; E Seemanova; J T Hecht
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025

8.  Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese population.

Authors:  Wei Tang; Xinya Du; Fan Feng; Jie Long; Yunfeng Lin; Peng Li; Lei Liu; Weidong Tian
Journal:  Cleft Palate Craniofac J       Date:  2008-04-30

9.  Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation.

Authors:  M Martinelli; L Scapoli; F Pezzetti; F Carinci; P Carinci; U Baciliero; E Padula; M Tognon
Journal:  Genomics       Date:  1998-07-15       Impact factor: 5.736

10.  Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

Authors:  Alexandre R Vieira; Joseph R Avila; Sandra Daack-Hirsch; Ecaterina Dragan; Têmis M Félix; Fedik Rahimov; Jill Harrington; Rebecca R Schultz; Yoriko Watanabe; Marla Johnson; Jennifer Fang; Sarah E O'Brien; Iêda M Orioli; Eduardo E Castilla; David R Fitzpatrick; Rulang Jiang; Mary L Marazita; Jeffrey C Murray
Journal:  PLoS Genet       Date:  2005-12-02       Impact factor: 5.917

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  6 in total

1.  Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate.

Authors:  Heglayne Pereira Vital da Silva; Gustavo Henrique de Medeiros Oliveira; Marcela Abbott Galvão Ururahy; João Felipe Bezerra; Karla Simone Costa de Souza; Raul Hernandes Bortolin; André Ducati Luchessi; Vivian Nogueira Silbiger; Valéria Morgiana Gualberto Duarte Moreira Lima; Gisele Correia Pacheco Leite; Maria Edinilma Felinto Brito; Erlane Marques Ribeiro; Vera Lúcia Gil-da-Silva-Lopes; Adriana Augusto de Rezende
Journal:  J Clin Lab Anal       Date:  2018-03-07       Impact factor: 2.352

2.  Clinical relevance of breast and gastric cancer-associated polymorphisms as potential susceptibility markers for oral clefts in the Brazilian population.

Authors:  Renato Assis Machado; Edimilson Martins de Freitas; Sibele Nascimento de Aquino; Daniella Reis B Martelli; Mário Sérgio Oliveira Swerts; Silvia Regina de Almeida Reis; Darlene Camati Persuhn; Helenara Salvati Bertolossi Moreira; Verônica Oliveira Dias; Ricardo D Coletta; Hercílio Martelli-Júnior
Journal:  BMC Med Genet       Date:  2017-04-04       Impact factor: 2.103

3.  Interaction Effect of RsaI and BamHI Polymorphisms of TGFα, BMP2 and BMP4 on the Occurrence of Non-Syndromic Cleft Lip and Palate in Iranian Patients.

Authors:  Saba Samadi; Asghar Ebadifar; Hamid Reza Khorram Khorshid; Koorosh Kamali; Mohammadreza Badiee
Journal:  Avicenna J Med Biotechnol       Date:  2018 Oct-Dec

4.  Drinking water disinfection byproducts and risk of orofacial clefts in the National Birth Defects Prevention Study.

Authors:  Peter Weyer; Anthony Rhoads; Jonathan Suhl; Thomas J Luben; Kristin M Conway; Peter H Langlois; Dereck Shen; Dong Liang; Soman Puzhankara; Marlene Anderka; Erin Bell; Marcia L Feldkamp; Adrienne T Hoyt; Bridget Mosley; Jennita Reefhuis; Paul A Romitti
Journal:  Birth Defects Res       Date:  2018-07-17       Impact factor: 2.344

5.  Association of Nucleotide Variants of GRHL3, IRF6, NAT2, SDC2, BCL3, and PVRL1 Genes with Nonsyndromic Cleft Lip With/Without Cleft Palate in Multigenerational Families: A Retrospective Study.

Authors:  Praveen Kumar Neela; Srinivas Reddy Gosla; Akhter Husain; Vasavi Mohan; Sravya Thumoju; B V Rajeshwari
Journal:  Contemp Clin Dent       Date:  2021-06-14

Review 6.  Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.

Authors:  Anna Jaruga; Jakub Ksiazkiewicz; Krystian Kuzniarz; Przemko Tylzanowski
Journal:  Int J Mol Sci       Date:  2022-01-16       Impact factor: 5.923

  6 in total

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