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Select item 86333071.

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing

Yanjing Wu, Yongle Wu, Kun Liu, Hui Liu, Shanshan Wang, Jian Huang, Huiguo Ding

Front Genet. 2021; 12: 775470. Published online 2021 Nov 12. doi: 10.3389/fgene.2021.775470

PMCID:: PMC8633307

Article PDF–2.2M

Select item 69445492.

The pathogenic AGT c.856+1G>T mutation of a patient with multiple renal cysts and hypertension

Wenqing Chen, Bingjue Li, Sha Jia, Qixia Shen, Chong Luo, Yucheng Wang, Shi Feng, Xiujin Shen, Chunhua Weng, Hong Jiang, Jianghua Chen

Ann Transl Med. 2019 Nov; 7(22): 699. doi: 10.21037/atm.2019.10.64

PMCID:: PMC6944549

Article PDF–1.9M

Select item 55857473.

A novel mutation in the hepatocyte nuclear factor-1β gene in maturity onset diabetes of the young 5 with multiple renal cysts and pancreas hypogenesis: A case report

You Lv, Zhuo Li, Kan He, Ying Gao, Xianchao Xiao, Yujia Liu, Guixia Wang

Exp Ther Med. 2017 Oct; 14(4): 3131–3136. Published online 2017 Aug 2. doi: 10.3892/etm.2017.4871

PMCID:: PMC5585747

Article PDF–800K

Select item 43777534.

Multiple kidney cysts in thin basement membrane disease with proteinuria and kidney function impairment

Angel M. Sevillano, Eduardo Gutierrez, Enrique Morales, Eduardo Hernandez, Maria Molina, Ester Gonzalez, Manuel Praga

Clin Kidney J. 2014 Jun; 7(3): 251–256. Published online 2014 Apr 15. doi: 10.1093/ckj/sfu033

PMCID:: PMC4377753

Article PDF–147K

Select item 107597145.

Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia

Yanfei Wang, Xiaoyu Xiao, Qiuqiu Lin, Rong Song, Xiaozhou Wang, Yiji Liang, Jingsong Chen, Xiaojun Luan, Zhiguang Zhou, Yang Xiao, Yaoming Xue, Jingyi Hu

J Diabetes Investig. 2024 Jan; 15(1): 121–130. Published online 2023 Sep 22. doi: 10.1111/jdi.14084

PMCID:: PMC10759714

Article PDF–876K

Select item 96922816.

Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing

Othman R. Alzahrani, Hanan E. Alatwi, Amnah A. Alharbi, Abdulrahman H. Alessa, Osama M. Al-Amer, Abeer F. R. Alanazi, Anwar M. Shams, Esra’a Alomari, Abdallah Y. Naser, Faisal a. Alzahrani, Salman Hosawi, Saeed M. Alghamdi, Wed A. Abdali, Imadeldin Elfaki, Yousef M. Hawsawi

Medicina (Kaunas) 2022 Nov; 58(11): 1657. Published online 2022 Nov 16. doi: 10.3390/medicina58111657

PMCID:: PMC9692281

Article PDF–2.0M

Select item 93888187.

Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis

Shenghui Ge, Mengge Yang, Wenfeng Gong, Wenzhe Chen, Jianjun Dong, Lin Liao

Front Endocrinol (Lausanne) 2022; 13: 917819. Published online 2022 Aug 5. doi: 10.3389/fendo.2022.917819

PMCID:: PMC9388818

Article PDF–4.5M

Select item 82967908.

Neonatal polycystic kidney disease: a novel variant

Catherine Finnegan, Claire Murphy, Fionnuala Breathnach

BMJ Case Rep. 2021; 14(7): e242991. Published online 2021 Jul 21. doi: 10.1136/bcr-2021-242991

PMCID:: PMC8296790

Article PDF–331K

Select item 74027229.

A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report

Tian Tao, Yuan Yang, Zhangxue Hu

Medicine (Baltimore) 2020 Jul 31; 99(31): e21438. Published online 2020 Jul 31. doi: 10.1097/MD.0000000000021438

PMCID:: PMC7402722

Article PDF–481K

Select item 721717710.

Expansion of the phenotype of lateral meningocele syndrome

Gerarda Cappuccio, Diletta Apuzzo, Marianna Alagia, Annalaura Torella, Michele Pinelli, Brunella Franco, Bruno Corrado, Ennio del Giudice, Alessandra D'Amico, Vincenzo Nigro, TUDP, Nicola Brunetti‐Pierri

Am J Med Genet A. 2020 May; 182(5): 1259–1262. Published online 2020 Mar 6. doi: 10.1002/ajmg.a.61536

PMCID:: PMC7217177

Article PDF–882K

Select item 714839011.

Kidney transplant patient with immunoglobulin A nephropathy subsequently diagnosed as concurrent autosomal dominant polycystic kidney disease during 17-year follow-up

Joichi Usui, Hirayasu Kai, Shuzo Kaneko, Mayumi Takahashi-Kobayashi, Masahiro Hagiwara, Kazuhiro Takahashi, Tatsuya Oda, Kunihiro Yamagata

CEN Case Rep. 2020 May; 9(2): 106–108. Published online 2019 Dec 2. doi: 10.1007/s13730-019-00436-x

PMCID:: PMC7148390

Article PDF–543K

Select item 712949212.

Polycystic kidney disease in a Chartreux cat

Antonella Volta, Sabrina Manfredi, Giacomo Gnudi, Aldo Gelati, Giorgio Bertoni

J Feline Med Surg. 2010 Feb; 12(2): 138–140. Published online 2009 Aug 28. doi: 10.1016/j.jfms.2009.06.001

PMCID:: PMC7129492

Article PDF–314K

Select item 599539813.

Tubular cell loss in early inv/nphp2 mutant kidneys represents a possible homeostatic mechanism in cortical tubular formation

Masaki Shigeta, Hirotaka Kanazawa, Takahiko Yokoyama

PLoS One. 2018; 13(6): e0198580. Published online 2018 Jun 11. doi: 10.1371/journal.pone.0198580

PMCID:: PMC5995398

Article PDF–9.3M

Select item 593754614.

Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation

L Truscott, J Gell, VY Chang, H Lee, SP Strom, R Pillai, A Sisk, JA Martinez-Agosto, M Anderson, N Federman

Pediatr Blood Cancer. Author manuscript; available in PMC 2018 May 7.

Published in final edited form as: Pediatr Blood Cancer. 2017 Jan; 64(1): 100–102. Published online 2016 Aug 31. doi: 10.1002/pbc.26197

PMCID:: PMC5937546

Article PDF–342K

Select item 566388715.

Histone deacetylase 6 inhibition reduces cysts by decreasing cAMP and Ca²⁺ in knock-out mouse models of polycystic kidney disease

Murali K. Yanda, Qiangni Liu, Valeriu Cebotaru, William B. Guggino, Liudmila Cebotaru

J Biol Chem. 2017 Oct 27; 292(43): 17897–17908. Published online 2017 Sep 8. doi: 10.1074/jbc.M117.803775

PMCID:: PMC5663887

Article PDF–3.1M

Select item 561258316.

Molecular characterization of the transition from acute to chronic kidney injury following ischemia/reperfusion

Jing Liu, Sanjeev Kumar, Egor Dolzhenko, Gregory F. Alvarado, Jinjin Guo, Can Lu, Yibu Chen, Meng Li, Mark C. Dessing, Riana K. Parvez, Pietro E. Cippà, A. Michaela Krautzberger, Gohar Saribekyan, Andrew D. Smith, Andrew P. McMahon

JCI Insight. 2017 Sep 21; 2(18): e94716. Published online 2017 Sep 21. doi: 10.1172/jci.insight.94716

PMCID:: PMC5612583

Article PDF–3.3M

Select item 537020417.

Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam, Philippe M Campeau

J Hum Genet. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: J Hum Genet. 2017 Apr; 62(4): 465–471. Published online 2016 Dec 22. doi: 10.1038/jhg.2016.151