Literature DB >> 32666711

Genetics and signaling mechanisms of orofacial clefts.

Kurt Reynolds1,2,3, Shuwen Zhang1,2, Bo Sun1,2, Michael A Garland1,2, Yu Ji1,2,3, Chengji J Zhou1,2,3.   

Abstract

Craniofacial development involves several complex tissue movements including several fusion processes to form the frontonasal and maxillary structures, including the upper lip and palate. Each of these movements are controlled by many different factors that are tightly regulated by several integral morphogenetic signaling pathways. Subject to both genetic and environmental influences, interruption at nearly any stage can disrupt lip, nasal, or palate fusion and result in a cleft. Here, we discuss many of the genetic risk factors that may contribute to the presentation of orofacial clefts in patients, and several of the key signaling pathways and underlying cellular mechanisms that control lip and palate formation, as identified primarily through investigating equivalent processes in animal models, are examined.
© 2020 Wiley Periodicals LLC.

Entities:  

Keywords:  Bmp/Tgfb signaling; Fgf signaling; Shh signaling; Wnt signaling; cleft lip/palate; human genetics; mouse models; retinoic acid signaling; signaling crosstalk; syndromic/non-syndromic

Year:  2020        PMID: 32666711      PMCID: PMC7883771          DOI: 10.1002/bdr2.1754

Source DB:  PubMed          Journal:  Birth Defects Res            Impact factor:   2.344


  498 in total

1.  Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family.

Authors:  Xiuqin Zhang; Omar A Ibrahimi; Shaun K Olsen; Hisashi Umemori; Moosa Mohammadi; David M Ornitz
Journal:  J Biol Chem       Date:  2006-04-04       Impact factor: 5.157

2.  LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.

Authors:  Fatema Alzahrani; Selwa A Al Hazzaa; Hamsa Tayeb; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2015-02-07       Impact factor: 4.132

Review 3.  Retinoic acid signaling pathways in development and diseases.

Authors:  Bhaskar C Das; Pritam Thapa; Radha Karki; Sasmita Das; Sweta Mahapatra; Ting-Chun Liu; Ingrid Torregroza; Darren P Wallace; Suman Kambhampati; Peter Van Veldhuizen; Amit Verma; Swapan K Ray; Todd Evans
Journal:  Bioorg Med Chem       Date:  2013-11-22       Impact factor: 3.641

4.  Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

Authors:  Matthias Baumann; Cecilia Giunta; Birgit Krabichler; Franz Rüschendorf; Nicoletta Zoppi; Marina Colombi; Reginald E Bittner; Susana Quijano-Roy; Francesco Muntoni; Sebahattin Cirak; Gudrun Schreiber; Yaqun Zou; Ying Hu; Norma Beatriz Romero; Robert Yves Carlier; Albert Amberger; Andrea Deutschmann; Volker Straub; Marianne Rohrbach; Beat Steinmann; Kevin Rostásy; Daniela Karall; Carsten G Bönnemann; Johannes Zschocke; Christine Fauth
Journal:  Am J Hum Genet       Date:  2012-01-19       Impact factor: 11.025

5.  POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

Authors:  J van Reeuwijk; M Janssen; C van den Elzen; D Beltran-Valero de Bernabé; P Sabatelli; L Merlini; M Boon; H Scheffer; M Brockington; F Muntoni; M A Huynen; A Verrips; C A Walsh; P G Barth; H G Brunner; H van Bokhoven
Journal:  J Med Genet       Date:  2005-05-13       Impact factor: 6.318

6.  ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population.

Authors:  Hong Wang; Jacqueline B Hetmanski; Ingo Ruczinski; Kung Yee Liang; M Daniele Fallin; Richard J Redett; Gerald V Raymond; Yah-Huei Wu Chou; Philip Kuo-Ting Chen; Vincent Yeow; Samuel S Chong; Felicia Sh Cheah; Ethylin Wang Jabs; Alan F Scott; Terri H Beaty
Journal:  Chin Med J (Engl)       Date:  2012-02       Impact factor: 2.628

7.  Indirect modulation of Shh signaling by Dlx5 affects the oral-nasal patterning of palate and rescues cleft palate in Msx1-null mice.

Authors:  Jun Han; Julie Mayo; Xun Xu; Jingyuan Li; Pablo Bringas; Richard L Maas; John L R Rubenstein; Yang Chai
Journal:  Development       Date:  2009-12       Impact factor: 6.868

8.  Hhat is a palmitoylacyltransferase with specificity for N-palmitoylation of Sonic Hedgehog.

Authors:  John A Buglino; Marilyn D Resh
Journal:  J Biol Chem       Date:  2008-06-04       Impact factor: 5.157

9.  Mice with Tak1 deficiency in neural crest lineage exhibit cleft palate associated with abnormal tongue development.

Authors:  Zhongchen Song; Chao Liu; Junichi Iwata; Shuping Gu; Akiko Suzuki; Cheng Sun; Wei He; Rong Shu; Lu Li; Yang Chai; YiPing Chen
Journal:  J Biol Chem       Date:  2013-03-04       Impact factor: 5.157

10.  The etiology of cleft palate formation in BMP7-deficient mice.

Authors:  Thaleia Kouskoura; Anastasiia Kozlova; Maria Alexiou; Susanne Blumer; Vasiliki Zouvelou; Christos Katsaros; Matthias Chiquet; Thimios A Mitsiadis; Daniel Graf
Journal:  PLoS One       Date:  2013-03-14       Impact factor: 3.240

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  6 in total

Review 1.  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

2.  Single-cell transcriptomic signatures and gene regulatory networks modulated by Wls in mammalian midline facial formation and clefts.

Authors:  Ran Gu; Shuwen Zhang; Subbroto Kumar Saha; Yu Ji; Kurt Reynolds; Moira McMahon; Bo Sun; Mohammad Islam; Paul A Trainor; YiPing Chen; Ying Xu; Yang Chai; Diana Burkart-Waco; Chengji J Zhou
Journal:  Development       Date:  2022-07-22       Impact factor: 6.862

3.  Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.

Authors:  Justyna Dąbrowska; Barbara Biedziak; Anna Szponar-Żurowska; Margareta Budner; Paweł P Jagodziński; Rafał Płoski; Adrianna Mostowska
Journal:  Mol Genet Genomics       Date:  2022-07-01       Impact factor: 2.980

4.  Mouse models in palate development and orofacial cleft research: Understanding the crucial role and regulation of epithelial integrity in facial and palate morphogenesis.

Authors:  Yu Lan; Rulang Jiang
Journal:  Curr Top Dev Biol       Date:  2022-02-28       Impact factor: 5.242

Review 5.  Exosomes-a potential indicator and mediator of cleft lip and palate: a narrative review.

Authors:  Meng Chen; Yue Xie; Yarui Luo; Yimin Xie; Na Wu; Shulei Peng; Qiang Chen
Journal:  Ann Transl Med       Date:  2021-09

6.  MicroRNA-124-3p Plays a Crucial Role in Cleft Palate Induced by Retinoic Acid.

Authors:  Hiroki Yoshioka; Yurie Mikami; Sai Shankar Ramakrishnan; Akiko Suzuki; Junichi Iwata
Journal:  Front Cell Dev Biol       Date:  2021-06-09
  6 in total

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