Literature DB >> 21567910

Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate.

Qiuping Yuan1, Susan H Blanton, Jacqueline T Hecht.   

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Year:  2011        PMID： 21567910      PMCID： PMC3711398          DOI： 10.1002/ajmg.a.33940

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  17 in total

1.  A test for linkage and association in general pedigrees: the pedigree disequilibrium test.

Authors:  E R Martin; S A Monks; L L Warren; N L Kaplan
Journal:  Am J Hum Genet       Date:  2000-05-23       Impact factor: 11.025

2.  Distinct spatio-temporal expression of ABCA and ABCG transporters in the developing and adult mouse brain.

Authors:  Masanori Tachikawa; Masahiko Watanabe; Satoko Hori; Masahiro Fukaya; Sumio Ohtsuki; Tomoko Asashima; Tetsuya Terasaki
Journal:  J Neurochem       Date:  2005-10       Impact factor: 5.372

3.  The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR).

Authors:  S M Azarian; G H Travis
Journal:  FEBS Lett       Date:  1997-06-09       Impact factor: 4.124

4.  Retinal-specific ATP-binding cassette transporter (ABCR/ABCA4) is expressed at the choroid plexus in rat brain.

Authors:  Jiraganya Bhongsatiern; Sumio Ohtsuki; Masanori Tachikawa; Satoko Hori; Tetsuya Terasaki
Journal:  J Neurochem       Date:  2005-03       Impact factor: 5.372

5.  A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

Authors:  Struan F A Grant; Kai Wang; Haitao Zhang; Wendy Glaberson; Kiran Annaiah; Cecilia E Kim; Jonathan P Bradfield; Joseph T Glessner; Kelly A Thomas; Maria Garris; Edward C Frackelton; F George Otieno; Rosetta M Chiavacci; Hyun-Duck Nah; Richard E Kirschner; Hakon Hakonarson
Journal:  J Pediatr       Date:  2009-08-04       Impact factor: 4.406

6.  PedCheck: a program for identification of genotype incompatibilities in linkage analysis.

Authors:  J R O'Connell; D E Weeks
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

7.  A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

Authors:  Terri H Beaty; Jeffrey C Murray; Mary L Marazita; Ronald G Munger; Ingo Ruczinski; Jacqueline B Hetmanski; Kung Yee Liang; Tao Wu; Tanda Murray; M Daniele Fallin; Richard A Redett; Gerald Raymond; Holger Schwender; Sheng-Chih Jin; Margaret E Cooper; Martine Dunnwald; Maria A Mansilla; Elizabeth Leslie; Stephen Bullard; Andrew C Lidral; Lina M Moreno; Renato Menezes; Alexandre R Vieira; Aline Petrin; Allen J Wilcox; Rolv T Lie; Ethylin W Jabs; Yah Huei Wu-Chou; Philip K Chen; Hong Wang; Xiaoqian Ye; Shangzhi Huang; Vincent Yeow; Samuel S Chong; Sun Ha Jee; Bing Shi; Kaare Christensen; Mads Melbye; Kimberly F Doheny; Elizabeth W Pugh; Hua Ling; Eduardo E Castilla; Andrew E Czeizel; Lian Ma; L Leigh Field; Lawrence Brody; Faith Pangilinan; James L Mills; Anne M Molloy; Peadar N Kirke; John M Scott; James M Scott; Mauricio Arcos-Burgos; Alan F Scott
Journal:  Nat Genet       Date:  2010-05-02       Impact factor: 38.330

8.  Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population.

Authors:  Adrianna Mostowska; Kamil K Hozyasz; Piotr Wojcicki; Barbara Biedziak; Patrycja Paradowska; Pawel P Jagodzinski
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2010-07

Review 9.  Gene/environment causes of cleft lip and/or palate.

Authors:  J C Murray
Journal:  Clin Genet       Date:  2002-04       Impact factor: 4.438

Review 10.  The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.

Authors:  Robert S Molday; Ming Zhong; Faraz Quazi
Journal:  Biochim Biophys Acta       Date:  2009-02-20
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  12 in total

Review 1.  Genetics and signaling mechanisms of orofacial clefts.

Authors:  Kurt Reynolds; Shuwen Zhang; Bo Sun; Michael A Garland; Yu Ji; Chengji J Zhou
Journal:  Birth Defects Res       Date:  2020-07-15       Impact factor: 2.344

2.  Further evidence of association of the ABCA4 gene with cleft lip/palate.

Authors:  Clarissa Fontoura; Renato M Silva; Jose M Granjeiro; Ariadne Letra
Journal:  Eur J Oral Sci       Date:  2012-10-15       Impact factor: 2.612

Review 3.  Environmental mechanisms of orofacial clefts.

Authors:  Michael A Garland; Kurt Reynolds; Chengji J Zhou
Journal:  Birth Defects Res       Date:  2020-10-30       Impact factor: 2.344

4.  ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions.

Authors:  B J Paul; K Palmer; J C Sharp; C H Pratt; S A Murray; M Dunnwald
Journal:  J Dent Res       Date:  2017-08-17       Impact factor: 6.116

5.  Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate.

Authors:  Vershanna E Morris; S Shahrukh Hashmi; Lisha Zhu; Lorena Maili; Christian Urbina; Steven Blackwell; Matthew R Greives; Edward P Buchanan; John B Mulliken; Susan H Blanton; W Jim Zheng; Jacqueline T Hecht; Ariadne Letra
Journal:  Hum Genet       Date:  2020-04-21       Impact factor: 4.132

6.  Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate.

Authors:  Deepak Chandrasekharan; Arvind Ramanathan
Journal:  Eur J Dent       Date:  2014-10

Review 7.  Polymorphisms of ATP-Binding Cassette, Sub-Family A, Member 4 (rs560426 and rs481931) and Non-Syndromic Cleft Lip/Palate: A Meta-Analysis.

Authors:  Mohammad Moslem Imani; Masoud Sadeghi; Santosh Kumar Tadakamadla; Annette Brühl; Dena Sadeghi Bahmani; Mohammad Taheri; Serge Brand
Journal:  Life (Basel)       Date:  2021-01-15

8.  Fine tuning of craniofacial morphology by distant-acting enhancers.

Authors:  Catia Attanasio; Alex S Nord; Yiwen Zhu; Matthew J Blow; Zirong Li; Denise K Liberton; Harris Morrison; Ingrid Plajzer-Frick; Amy Holt; Roya Hosseini; Sengthavy Phouanenavong; Jennifer A Akiyama; Malak Shoukry; Veena Afzal; Edward M Rubin; David R FitzPatrick; Bing Ren; Benedikt Hallgrímsson; Len A Pennacchio; Axel Visel
Journal:  Science       Date:  2013-10-25       Impact factor: 47.728

9.  High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development.

Authors:  Andrea Wilderman; Jennifer VanOudenhove; Jeffrey Kron; James P Noonan; Justin Cotney
Journal:  Cell Rep       Date:  2018-05-01       Impact factor: 9.423

10.  DOT: Gene-set analysis by combining decorrelated association statistics.

Authors:  Olga A Vsevolozhskaya; Min Shi; Fengjiao Hu; Dmitri V Zaykin
Journal:  PLoS Comput Biol       Date:  2020-04-14       Impact factor: 4.475
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