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1.

Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.

Lansdon, Lisa A; Dickinson, Amanda; Arlis, Sydney; Liu, Huan; Hlas, Arman; Hahn, Alyssa; Bonde, Greg; Long, Abby; Standley, Jennifer; Tyryshkina, Anastasia; Wehby, George; Lee, Nanette R; Daack-Hirsch, Sandra; Mohlke, Karen; Girirajan, Santhosh; Darbro, Benjamin W; Cornell, Robert A; Houston, Douglas W; Murray, Jeffrey C; Manak, J Robert.

Am J Hum Genet ; 110(1): 71-91, 2023 01 05.

Artículo en Inglés | MEDLINE | ID: mdl-36493769

2.

The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.

Oberbeck, Nina; Pham, Victoria C; Webster, Joshua D; Reja, Rohit; Huang, Christine S; Zhang, Yue; Roose-Girma, Merone; Warming, Søren; Li, Qingling; Birnberg, Andrew; Wong, Weng; Sandoval, Wendy; Komuves, László G; Yu, Kebing; Dugger, Debra L; Maltzman, Allie; Newton, Kim; Dixit, Vishva M.

Nature ; 574(7777): 249-253, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-31578523

3.

Suppression of microRNA 124-3p and microRNA 340-5p ameliorates retinoic acid-induced cleft palate in mice.

Yoshioka, Hiroki; Suzuki, Akiko; Iwaya, Chihiro; Iwata, Junichi.

Development ; 149(9)2022 05 01.

Artículo en Inglés | MEDLINE | ID: mdl-35420127

4.

Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate.

Yu, Yao; Alvarado, Rolando; Petty, Lauren E; Bohlender, Ryan J; Shaw, Douglas M; Below, Jennifer E; Bejar, Nada; Ruiz, Oscar E; Tandon, Bhavna; Eisenhoffer, George T; Kiss, Daniel L; Huff, Chad D; Letra, Ariadne; Hecht, Jacqueline T.

Hum Mol Genet ; 31(14): 2348-2357, 2022 07 21.

Artículo en Inglés | MEDLINE | ID: mdl-35147171

5.

Mycn deficiency underlies the development of orofacial clefts in mice and humans.

Yang, Ruihuan; Li, Ruyi; Huang, Zhuo; Zuo, Yining; Yue, Haitang; Wu, Hailin; Gu, Fan; Wang, Fei; He, Miao; Bian, Zhuan.

Hum Mol Genet ; 31(5): 803-815, 2022 03 03.

Artículo en Inglés | MEDLINE | ID: mdl-34590686

6.

Symmetry and fluctuation of cell movements in neural crest-derived facial mesenchyme.

Danescu, Adrian; Rens, Elisabeth G; Rehki, Jaspreet; Woo, Johnathan; Akazawa, Takashi; Fu, Katherine; Edelstein-Keshet, Leah; Richman, Joy M.

Development ; 148(9)2021 05 01.

Artículo en Inglés | MEDLINE | ID: mdl-33757991

7.

Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios.

Ray, Debashree; Venkataraghavan, Sowmya; Zhang, Wanying; Leslie, Elizabeth J; Hetmanski, Jacqueline B; Weinberg, Seth M; Murray, Jeffrey C; Marazita, Mary L; Ruczinski, Ingo; Taub, Margaret A; Beaty, Terri H.

PLoS Genet ; 17(7): e1009584, 2021 07.

Artículo en Inglés | MEDLINE | ID: mdl-34242216

8.

Benchmarking statistical methods for analyzing parent-child dyads in genetic association studies.

Ray, Debashree; Vergara, Candelaria; Taub, Margaret A; Wojcik, Genevieve; Ladd-Acosta, Christine; Beaty, Terri H; Duggal, Priya.

Genet Epidemiol ; 46(5-6): 266-284, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35451532

9.

Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes.

Mukhopadhyay, Nandita; Feingold, Eleanor; Moreno-Uribe, Lina; Wehby, George; Valencia-Ramirez, Luz Consuelo; Restrepo Muñeton, Claudia P; Padilla, Carmencita; Deleyiannis, Frederic; Christensen, Kaare; Poletta, Fernando A; Orioli, Ieda M; Hecht, Jacqueline T; Buxó, Carmen J; Butali, Azeez; Adeyemo, Wasiu L; Vieira, Alexandre R; Shaffer, John R; Murray, Jeffrey C; Weinberg, Seth M; Leslie, Elizabeth J; Marazita, Mary L.

Genet Epidemiol ; 46(3-4): 182-198, 2022 04.

Artículo en Inglés | MEDLINE | ID: mdl-35191549

10.

Identification of microRNAs and gene regulatory networks in cleft lip common in humans and mice.

Yoshioka, Hiroki; Li, Aimin; Suzuki, Akiko; Ramakrishnan, Sai Shankar; Zhao, Zhongming; Iwata, Junichi.

Hum Mol Genet ; 30(19): 1881-1893, 2021 09 15.

Artículo en Inglés | MEDLINE | ID: mdl-34104955

11.

RERE deficiency contributes to the development of orofacial clefts in humans and mice.

Kim, Bum Jun; Zaveri, Hitisha P; Kundert, Peter N; Jordan, Valerie K; Scott, Tiana M; Carmichael, Jenny; Scott, Daryl A.

Hum Mol Genet ; 30(7): 595-602, 2021 05 12.

Artículo en Inglés | MEDLINE | ID: mdl-33772547

12.

Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.

Bishop, Madison R; Diaz Perez, Kimberly K; Sun, Miranda; Ho, Samantha; Chopra, Pankaj; Mukhopadhyay, Nandita; Hetmanski, Jacqueline B; Taub, Margaret A; Moreno-Uribe, Lina M; Valencia-Ramirez, Luz Consuelo; Restrepo Muñeton, Claudia P; Wehby, George; Hecht, Jacqueline T; Deleyiannis, Frederic; Weinberg, Seth M; Wu-Chou, Yah Huei; Chen, Philip K; Brand, Harrison; Epstein, Michael P; Ruczinski, Ingo; Murray, Jeffrey C; Beaty, Terri H; Feingold, Eleanor; Lipinski, Robert J; Cutler, David J; Marazita, Mary L; Leslie, Elizabeth J.

Am J Hum Genet ; 107(1): 124-136, 2020 07 02.

Artículo en Inglés | MEDLINE | ID: mdl-32574564

13.

Msx1 deficiency interacts with hypoxia and induces a morphogenetic regulation during mouse lip development.

Nakatomi, Mitsushiro; Ludwig, Kerstin U; Knapp, Michael; Kist, Ralf; Lisgo, Steven; Ohshima, Hayato; Mangold, Elisabeth; Peters, Heiko.

Development ; 147(21)2020 06 24.

Artículo en Inglés | MEDLINE | ID: mdl-32467233

14.

Cleft lip and cleft palate in Esrp1 knockout mice is associated with alterations in epithelial-mesenchymal crosstalk.

Lee, SungKyoung; Sears, Matthew J; Zhang, Zijun; Li, Hong; Salhab, Imad; Krebs, Philippe; Xing, Yi; Nah, Hyun-Duck; Williams, Trevor; Carstens, Russ P.

Development ; 147(21)2020 04 30.

Artículo en Inglés | MEDLINE | ID: mdl-32253237

15.

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

Lough, Kendall J; Spitzer, Danielle C; Bergman, Abby J; Wu, Jessica J; Byrd, Kevin M; Williams, Scott E.

Development ; 147(21)2020 07 13.

Artículo en Inglés | MEDLINE | ID: mdl-32554531

16.

The molecular anatomy of mammalian upper lip and primary palate fusion at single cell resolution.

Li, Hong; Jones, Kenneth L; Hooper, Joan E; Williams, Trevor.

Development ; 146(12)2019 06 17.

Artículo en Inglés | MEDLINE | ID: mdl-31118233

17.

Association of single nucleotide polymorphisms in the IRF6 gene with nonsyndromic cleft lip with or without cleft palate in Kinh Vietnamese patients.

Phan, Hoanh Duy Ba; Phuong, Lam Hoai; Dang, Tran Ngoc; Tram, Duong Bich; Vu, Hoang Anh.

Mol Biol Rep ; 50(2): 1469-1476, 2023 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-36484949

18.

Optimal Timing of Fractional CO 2 Laser on Cleft Lip Scars: A Single-Blind Randomized Controlled Cohort Study.

Chi, Haoshu; Zhao, Xinran; Shen, Lingyue; Liu, Yiyun; Cai, Ming.

Dermatol Surg ; 49(2): 145-148, 2023 Feb 01.

Artículo en Inglés | MEDLINE | ID: mdl-36689573

19.

Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.

Huang, Lulin; Jia, Zhonglin; Shi, Yi; Du, Qin; Shi, Jiayu; Wang, Ziyan; Mou, Yandong; Wang, Qingwei; Zhang, Bihe; Wang, Qing; Ma, Shi; Lin, He; Duan, Shijun; Yin, Bin; Lin, Yansong; Wang, Yiru; Jiang, Dan; Hao, Fang; Zhang, Lin; Wang, Haixin; Jiang, Suyuan; Xu, Huijuan; Yang, Chengwei; Li, Chenghao; Li, Jingtao; Shi, Bing; Yang, Zhenglin.

PLoS Genet ; 15(10): e1008357, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-31609978

20.

Single-cell RNA-seq identifies a reversible mesodermal activation in abnormally specified epithelia of p63 EEC syndrome.

Soares, Eduardo; Xu, Quan; Li, Qingqing; Qu, Jieqiong; Zheng, Yuxuan; Raeven, Henriette H M; Brandao, Karina O; Petit, Isabelle; van den Akker, Willem M R; van Heeringen, Simon J; Aberdam, Daniel; Tang, Fuchou; Zhou, Huiqing.

Proc Natl Acad Sci U S A ; 116(35): 17361-17370, 2019 08 27.

Artículo en Inglés | MEDLINE | ID: mdl-31413199

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