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Items: 1 to 20 of 65

1.
Roles of BOR2, a Boron Exporter, in Cross Linking of Rhamnogalacturonan II and Root Elongation under Boron Limitation in Arabidopsis
Kyoko Miwa, Shinji Wakuta, Shigeki Takada, Koji Ide, Junpei Takano, Satoshi Naito, Hiroyuki Omori, Toshiro Matsunaga, Toru Fujiwara
Plant Physiol. 2013 Dec; 163(4): 1699–1709. Published online 2013 Oct 10. doi: 10.1104/pp.113.225995
PMCID:
PMC3850200
ArticlePubReaderPDF–1.1MCite
2.
Mcrs1 is required for branchial arch and cranial cartilage development
Stephanie Keer, Helene Cousin, Karyn Jourdeuil, Karen M. Neilson, Andre L. P. Tavares, Dominique Alfandari, Sally A. Moody
Dev Biol. Author manuscript; available in PMC 2023 Aug 15.
Published in final edited form as: Dev Biol. 2022 Sep; 489: 62–75. Published online 2022 Jun 11. doi: 10.1016/j.ydbio.2022.06.002
PMCID:
PMC10426812
ArticlePubReaderPDF–3.4MCite
3.
Dysfunction of programmed embryo senescence is linked to genetic developmental defects
Cristina de Lope, Rebeca García-Lucena, Marta Magariños, Yolanda León, Nuria Casa-Rodríguez, Nuria Contreras, Carmen Escudero-Iriarte, Isabel Varela-Nieto, Pascal Maire, Ignacio Palmero
Development. 2023 May 1; 150(9): dev200903. Published online 2023 May 3. doi: 10.1242/dev.200903
PMCID:
PMC10259514
ArticlePubReaderCite
4.
鳃-耳-肾综合征家系EYA1基因一个新的外显子重复变异
李 隽, 赵 培伟, 夏 志杰, 姚 薇, 魏 幼华, 郝 丽丽, 夏 忠芳, 何 学莲
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Jul 5; 35(7): 607–612. Chinese. doi: 10.13201/j.issn.2096-7993.2021.07.007
PMCID:
PMC10127898
ArticlePubReaderPDF–5.8MCite
5.
An infant with congenital heart defects and proteinuria: a case report
Dandan Liu, Yafeng Wang
BMC Pediatr. 2022; 22: 636. Published online 2022 Nov 4. doi: 10.1186/s12887-022-03705-4
PMCID:
PMC9635197
ArticlePubReaderPDF–953KCite
6.
Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report
Ping Tang, Jiarui Li, Jun Li, Juan Yang, Jianjun Zhu
Medicine (Baltimore) 2022 Oct 28; 101(43): e31172. Published online 2022 Oct 28. doi: 10.1097/MD.0000000000031172
PMCID:
PMC9622624
ArticlePubReaderPDF–615KCite
7.
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome – case report
Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina, Donatella Milani
Ital J Pediatr. 2022; 48: 177. Published online 2022 Oct 1. doi: 10.1186/s13052-022-01369-5
PMCID:
PMC9526977
ArticlePubReaderPDF–1014KCite
8.
Ectopic expression of BOTRYTIS SUSCEPTIBLE1 reveals its function as a positive regulator of wound-induced cell death and plant susceptibility to Botrytis
Fuqiang Cui, Xiaoxiao Li, Wenwu Wu, Wenbo Luo, Ying Wu, Mikael Brosché, Kirk Overmyer
Plant Cell. 2022 Oct; 34(10): 4105–4116. Published online 2022 Aug 10. doi: 10.1093/plcell/koac206
Correction in:
Plant Cell. 2023 Feb; 35(2): 942.
PMCID:
PMC9516177
ArticlePubReaderPDF–4.6MCite
9.
A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to De novo Branchio-oto-renal Syndrome
Ryosuke Saiki, Kan Katayama, Masako Kitano, Kayo Tsujimoto, Fumika Tanaka, Yasuo Suzuki, Tomohiro Murata, Tairo Kurita, Ryuji Okamoto, Kazuhiko Takeuchi, Kaoru Dohi
Intern Med. 2022 Jul 1; 61(13): 2033–2038. Published online 2021 Dec 4. doi: 10.2169/internalmedicine.8508-21
PMCID:
PMC9334246
ArticlePubReaderPDF–1.2MCite
10.
A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family
Abdoulaye Yalcouyé, Oumou Traoré, Salimata Diarra, Isabelle Schrauwen, Kevin Esoh, Magda Kamila Kadlubowska, Thashi Bharadwaj, Samuel Mawuli Adadey, Mohamed Kéita, Cheick O. Guinto, Suzanne M. Leal, Guida Landouré, Ambroise Wonkam
Mol Genet Genomic Med. 2022 Jul; 10(7): e1995. Published online 2022 Jun 14. doi: 10.1002/mgg3.1995
PMCID:
PMC9266589
ArticlePubReaderPDF–2.0MCite
11.
Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation
J. Pao, F. D’Arco, E. Clement, S. Picariello, G. Moonis, C.D. Robson, A.F. Juliano
AJNR Am J Neuroradiol. 2022 Feb; 43(2): 309–314. doi: 10.3174/ajnr.A7396
PMCID:
PMC8985666
ArticlePubReaderPDF–1.0MCite
12.
Generation of a new six1-null line in Xenopus tropicalis for study of development and congenital disease
Kelsey Coppenrath, Andre L.P. Tavares, Nikko-Ideen Shaidani, Marcin Wlizla, Sally A. Moody, Marko Horb
Genesis. Author manuscript; available in PMC 2022 Dec 1.
Published in final edited form as: Genesis. 2021 Dec; 59(12): e23453. Published online 2021 Oct 19. doi: 10.1002/dvg.23453
PMCID:
PMC8950083
ArticlePubReaderPDF–583KCite
13.
Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome
Masatsugu Masuda, Ayako Kanno, Kiyomitsu Nara, Hideki Mutai, Naoya Morisada, Kazumoto Iijima, Noriko Morimoto, Atsuko Nakano, Tomoko Sugiuchi, Yasuhide Okamoto, Sawako Masuda, Sayaka Katsunuma, Kaoru Ogawa, Tatsuo Matsunaga
Sci Rep. 2022; 12: 969. Published online 2022 Jan 19. doi: 10.1038/s41598-022-04885-w
PMCID:
PMC8770796
ArticlePubReaderPDF–1.5MCite
14.
Sobp modulates the transcriptional activation of Six1 target genes and is required during craniofacial development
Andre L. P. Tavares, Karyn Jourdeuil, Karen M. Neilson, Himani D. Majumdar, Sally A. Moody
Development. 2021 Sep 1; 148(17): dev199684. Published online 2021 Sep 6. doi: 10.1242/dev.199684
PMCID:
PMC8451943
ArticlePubReaderCite
15.
A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome
Rui Han, Yan Xia, Zhijuan Liu, Shuang Wu, Erdengqieqieke Ye, Ling Duan, Jianbing Ding, Xiaolin La
Medicine (Baltimore) 2021 Jun 25; 100(25): e24691. Published online 2021 Jun 25. doi: 10.1097/MD.0000000000024691
PMCID:
PMC8238333
ArticlePubReaderPDF–963KCite
16.
Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome
Hao Zheng, Jun Xu, Yu Wang, Yun Lin, Qingqiang Hu, Xing Li, Jiusheng Chu, Changling Sun, Yongchuan Chai, Xiuhong Pang
Neural Plast. 2021; 2021: 5524381. Published online 2021 Apr 5. doi: 10.1155/2021/5524381
PMCID:
PMC8046558
ArticlePubReaderPDF–1.0MCite
17.
Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review
Hong-Xia Li, Peng Zhou, Min Tong, Yan Zheng
J Int Med Res. 2020 Jul; 48(7): 0300060520926363. Published online 2020 Jul 21. doi: 10.1177/0300060520926363
PMCID:
PMC7375735
ArticlePubReaderPDF–616KCite
18.
Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models
Pratibha Bhalla, Christian A. Wysocki, Nicolai S. C. van Oers
Front Immunol. 2020; 11: 830. Published online 2020 May 5. doi: 10.3389/fimmu.2020.00830
PMCID:
PMC7214791
ArticlePubReaderPDF–994KCite
19.
PAX1 is essential for development and function of the human thymus
Yasuhiro Yamazaki, Raul Urrutia, Luis M. Franco, Silvia Giliani, Kejian Zhang, Anas M. Alazami, A. Kerry Dobbs, Stefania Masneri, Avni Joshi, Francisco Otaizo-Carrasquero, Timothy G. Myers, Sundar Ganesan, Maria Pia Bondioni, Mai Lan Ho, Catherine Marks, Huda Alajlan, Reem W Mohammed, Fanggeng Zou, C. Alexander Valencia, Alexandra H. Filipovich, Fabio Facchetti, Bertrand Boisson, Chiara Azzari, Bander K. Al-Saud, Hamoud Al-Mousa, Jean Laurent Casanova, Roshini S. Abraham, Luigi D. Notarangelo
Sci Immunol. Author manuscript; available in PMC 2020 Aug 28.
Published in final edited form as: Sci Immunol. 2020 Feb 28; 5(44): eaax1036. doi: 10.1126/sciimmunol.aax1036
PMCID:
PMC7189207
ArticlePubReaderPDF–2.2MCite
20.
Inherited glomerular diseases in the gilded age of genomic advancements
Ashima Gulati, Neera Dahl, Alda Tufro
Pediatr Nephrol. 2020; 35(6): 959–968. Published online 2019 May 3. doi: 10.1007/s00467-019-04266-y
PMCID:
PMC7184048
ArticlePubReaderPDF–1.1MCite

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