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Items: 1 to 20 of 197

1.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Korbinian M. Riedhammer, Thanh-Minh T. Nguyen, Can Koşukcu, Julia Calzada-Wack, Yong Li, Nurit Assia Batzir, Seha Saygılı, Vera Wimmers, Gwang-Jin Kim, Marialena Chrysanthou, Zeineb Bakey, Efrat Sofrin-Drucker, Markus Kraiger, Adrián Sanz-Moreno, Oana V. Amarie, Birgit Rathkolb, Tanja Klein-Rodewald, Lillian Garrett, Sabine M. Hölter, Claudia Seisenberger, Stefan Haug, Pascal Schlosser, Susan Marschall, Wolfgang Wurst, Helmut Fuchs, Valerie Gailus-Durner, Matthias Wuttke, Martin Hrabe de Angelis, Jasmina Ćomić, Özlem Akgün Doğan, Yasemin Özlük, Mehmet Taşdemir, Ayşe Ağbaş, Nur Canpolat, Naama Orenstein, Salim Çalışkan, Ruthild G. Weber, Carsten Bergmann, Cecile Jeanpierre, Sophie Saunier, Tze Y. Lim, Friedhelm Hildebrandt, Bader Alhaddad, Lina Basel-Salmon, Yael Borovitz, Kaman Wu, Dinu Antony, Julia Matschkal, Christian W. Schaaf, Lutz Renders, Christoph Schmaderer, Manuel Rogg, Christoph Schell, Thomas Meitinger, Uwe Heemann, Anna Köttgen, Sebastian J. Arnold, Fatih Ozaltin, Miriam Schmidts, Julia Hoefele
Kidney Int. 2024 Apr; 105(4): 844–864. doi: 10.1016/j.kint.2023.11.032
PMCID:
PMC10957342
Article
2.
A novel homozygous missense variant in LRP4 causing Cenani‐Lenz syndactyly syndrome and literature review
Yadong Fu, Yueyun Zhou, Qing'e Zhang, Jingjing Dong, Jianli Zheng, Min Li, Jianbing Liu
Mol Genet Genomic Med. 2024 Jan; 12(1): e2319. Published online 2023 Nov 27. doi: 10.1002/mgg3.2319
PMCID:
PMC10767612
ArticlePDF–2.0M
3.
Netrin 1 directs vascular patterning and maturity in the developing kidney
Samuel E. Honeycutt, Pierre-Emmanuel Y. N'Guetta, Deanna M. Hardesty, Yubin Xiong, Shamus L. Cooper, Matthew J. Stevenson, Lori L. O'Brien
Development. 2023 Nov 15; 150(22): dev201886. Published online 2023 Nov 24. doi: 10.1242/dev.201886
PMCID:
PMC10690109
Article
4.
A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement
Qian Li, Qianying Liu, Suwen Liu, Lichun Yu, Zhenle Yang, Cong Wang, Jing Wang, Shuzhen Sun
BMC Pediatr. 2023; 23: 590. Published online 2023 Nov 23. doi: 10.1186/s12887-023-04415-1
PMCID:
PMC10666333
ArticlePDF–1.0M
5.
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski
HGG Adv. 2023 Jul 13; 4(3): 100188. Published online 2023 Mar 29. doi: 10.1016/j.xhgg.2023.100188
PMCID:
PMC10130500
ArticlePDF–10M
6.
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract
Bixia Zheng, Chunyan Wang, Steve Seltzsam, Sophia Schneider, Luca Schierbaum, Wilfred Wu, Rufeng Dai, Dervla M. Connaughton, Makiko Nakayama, Nina Mann, Stuart B. Bauer, Hazem S. Awad, Loai A. Eid, Velibor Tasic, Shirlee Shril, Friedhelm Hildebrandt
Am J Med Genet A. Author manuscript; available in PMC 2023 Apr 2.
Published in final edited form as: Am J Med Genet A. 2022 Jan; 188(1): 310–313. Published online 2021 Sep 15. doi: 10.1002/ajmg.a.62502
PMCID:
PMC10067133
ArticlePDF–574K
7.
PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database
Susanna Negrisolo, Elisa Benetti
Int J Mol Sci. 2023 Feb; 24(4): 4165. Published online 2023 Feb 19. doi: 10.3390/ijms24044165
PMCID:
PMC9962628
ArticlePDF–4.8M
8.
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
ArticlePDF–953K
9.
State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes
Megan D. McCoy, Sara M. Sarasua, Jane M. DeLuca, Stephanie Davis, Katy Phelan, Roger Curtis Rogers, Luigi Boccuto
Genes (Basel) 2022 Jun; 13(6): 1042. Published online 2022 Jun 10. doi: 10.3390/genes13061042
PMCID:
PMC9223119
ArticlePDF–1.8M
10.
TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys
Eve Stern, Asaf Vivante, Ortal Barel, Yael Levy-Shraga
J Clin Res Pediatr Endocrinol. 2022 Jun; 14(2): 227–232. Published online 2022 Jun 7. doi: 10.4274/jcrpe.galenos.2020.2020.0265
PMCID:
PMC9176091
ArticlePDF–617K
11.
Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
D. Hettiarachchi, S. M. V. Subasinghe, G. G. Anandagoda, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake
BMC Med Genomics. 2022; 15: 82. Published online 2022 Apr 14. doi: 10.1186/s12920-022-01226-8
PMCID:
PMC9009051
ArticlePDF–2.5M
12.
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia
Gabrielle Lemire, Bixia Zheng, Grace U. Ediae, Ruobing Zou, Priya T. Bhola, Caitlin Chisholm, Joseph de Nanassy, Bryan Lo, Chunyan Wang, Shirlee Shril, Sherif El Desoky, Mohammed Shalaby, Jameela A. Kari, Xueqi Wang, Care4Rare Canada Consortium, Kristin D. Kernohan, Kym M. Boycott, Friedhelm Hildebrandt, Sarah L. Sawyer
Am J Med Genet A. Author manuscript; available in PMC 2022 Oct 1.
Published in final edited form as: Am J Med Genet A. 2021 Oct; 185(10): 3005–3011. Published online 2021 Jun 19. doi: 10.1002/ajmg.a.62398
PMCID:
PMC8446303
ArticlePDF–615K
13.
DACH1 protects podocytes from experimental diabetic injury and modulates PTIP-H3K4Me3 activity
Aili Cao, Jianhua Li, Morad Asadi, John M. Basgen, Bingbing Zhu, Zhengzi Yi, Song Jiang, Tomohito Doke, Osama El Shamy, Niralee Patel, Paolo Cravedi, Evren U. Azeloglu, Kirk N. Campbell, Madhav Menon, Steve Coca, Weijia Zhang, Hao Wang, Ke Zen, Zhihong Liu, Barbara Murphy, John C. He, Vivette D. D’Agati, Katalin Susztak, Lewis Kaufman
J Clin Invest. 2021 May 17; 131(10): e141279. Published online 2021 May 17. doi: 10.1172/JCI141279
PMCID:
PMC8121508
ArticlePDF–17M
14.
A Homozygous Dab1−/− Is a Potential Novel Cause of Autosomal Recessive Congenital Anomalies of the Mice Kidney and Urinary Tract
Anita Racetin, Natalija Filipović, Mirela Lozić, Masaki Ogata, Larissa Gudelj Ensor, Nela Kelam, Petra Kovačević, Koichiro Watanabe, Yu Katsuyama, Mirna Saraga-Babić, Merica Glavina Durdov, Katarina Vukojević
Biomolecules. 2021 Apr; 11(4): 609. Published online 2021 Apr 20. doi: 10.3390/biom11040609
PMCID:
PMC8073787
ArticlePDF–5.4M
15.
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome
Nan Yang, Nan Wu, Shuangshuang Dong, Ling Zhang, Yanxue Zhao, Weisheng Chen, Renqian Du, Chengcheng Song, Xiaojun Ren, Jiaqi Liu, Davut Pehlivan, Zhenlei Liu, Rao Jia, Chunyan Wang, Sen Zhao, Amy M. Breman, Huadan Xue, Hao Sun, Jianxiong Shen, Shuyang Zhang, Jennifer E. Posey, Hong Xu, Li Jin, Jianguo Zhang, Pengfei Liu, Simone Sanna-Cherchi, Guixing Qiu, Zhihong Wu, James R. Lupski, Feng Zhang
Kidney Int. Author manuscript; available in PMC 2021 Oct 1.
Published in final edited form as: Kidney Int. 2020 Oct; 98(4): 1020–1030. Published online 2020 May 22. doi: 10.1016/j.kint.2020.04.045
PMCID:
PMC7673260
ArticlePDF–1.4M
16.
The core SWI/SNF catalytic subunit Brg1 regulates nephron progenitor cell proliferation and differentiation
Jeannine M. Basta, Ajeet P. Singh, Lynn Robbins, Lisa Stout, Michelle Pherson, Michael Rauchman
Dev Biol. Author manuscript; available in PMC 2020 Sep 27.
Published in final edited form as: Dev Biol. 2020 Aug 15; 464(2): 176–187. Published online 2020 Jun 3. doi: 10.1016/j.ydbio.2020.05.008
PMCID:
PMC7520014
ArticlePDF–2.6M
17.
Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1–34 deletion: case report and literature review
Xue He, Huijun Shen, Haidong Fu, Chunyue Feng, Zhixia Liu, Yanyan Jin, Jianhua Mao
BMC Pediatr. 2020; 20: 327. Published online 2020 Jul 2. doi: 10.1186/s12887-020-02205-7
PMCID:
PMC7330938
ArticlePDF–2.3M
18.
Case report: a 58 -year -old man with small kidneys and elevated liver enzymes
Jonathan Dash, Patrick Saudan, Ariane Paoloni-Giacobino, Solange Moll, Sophie de Seigneux
BMC Nephrol. 2020; 21: 107. Published online 2020 Mar 27. doi: 10.1186/s12882-020-01762-4
PMCID:
PMC7099816
ArticlePDF–1.0M
19.
Deletion in the Cobalamin Synthetase W Domain–Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract
Shoichiro Kanda, Masaki Ohmuraya, Hiroyuki Akagawa, Shigeru Horita, Yasuhiro Yoshida, Naoto Kaneko, Noriko Sugawara, Kiyonobu Ishizuka, Kenichiro Miura, Yutaka Harita, Toshiyuki Yamamoto, Akira Oka, Kimi Araki, Toru Furukawa, Motoshi Hattori
J Am Soc Nephrol. 2020 Jan; 31(1): 139–147. Published online 2019 Dec 20. doi: 10.1681/ASN.2019040398
PMCID:
PMC6934996
Article
20.
Early B Cell Factor 1 (EBF1) Regulates Glomerular Development by Controlling Mesangial Maturation and Consequently COX-2 Expression
Tracy Nelson, Heino Velazquez, Nancy Troiano, Jackie A. Fretz
J Am Soc Nephrol. 2019 Sep; 30(9): 1559–1572. Published online 2019 Aug 12. doi: 10.1681/ASN.2018070699
PMCID:
PMC6727263
Article

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