Publications:

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Turner syndrome and autosomal dominant polycystic kidney disease.

Proceedings (Baylor University. Medical Center)

Styer, Rachel R; Stephen, Matthew M; Hashim, Faris F; Birkemeier, Krista K

Publication Date: 2020-11-16

Variant appearance in text: PKD1: 12010C>T; Q4004X

PubMed Link: 33456188

Variant Present in the following documents:

• Main text

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Gene panel for Mendelian strokes.

Stroke And Vascular Neurology

Fang, Fang F; Xu, Zhe Z; Suo, Yue Y; Wang, Hui H; Cheng, Si S; Li, Hao H; Li, Wei W; Wang, Yongjun Y

Publication Date: 2020-12

Variant appearance in text: PKD1: 12010C>T; Q4004*

PubMed Link: 32341005

Variant Present in the following documents:

• svn-2020-000352supp003.pdf

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Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Journal Of Clinical Medicine

Kataoka, Hiroshi H; Fukuoka, Hinata H; Makabe, Shiho S; Yoshida, Rie R; Teraoka, Atsuko A; Ushio, Yusuke Y; Akihisa, Taro T; Manabe, Shun S; Sato, Masayo M; Mitobe, Michihiro M; Tsuchiya, Ken K; Nitta, Kosaku K; Mochizuki, Toshio T

Publication Date: 2020-01-05

Variant appearance in text: PKD1: 12010C>T; Gln4004X

PubMed Link: 31948117

Variant Present in the following documents:

• jcm-09-00146-s001.pdf

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Expression and secretion of CXCL12 are enhanced in autosomal dominant polycystic kidney disease.

Bmb Reports

Kim, Hyunho H; Sung, Jinmo J; Kim, Hyunsuk H; Ryu, Hyunjin H; Cho Park, Hayne H; Oh, Yun Kyu YK; Lee, Hyun-Seob HS; Oh, Kook-Hwan KH; Ahn, Curie C

Publication Date: 2019-07

Variant appearance in text: PKD1: Q4004X

PubMed Link: 31186083

Variant Present in the following documents:

• bmb-52-463.pdf

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PCNT point mutations and familial intracranial aneurysms.

Neurology

Lorenzo-Betancor, Oswaldo O; Blackburn, Patrick R PR; Edwards, Emily E; Vázquez-do-Campo, Rocío R; Klee, Eric W EW; Labbé, Catherine C; Hodges, Kyndall K; Glover, Patrick P; Sigafoos, Ashley N AN; Soto, Alexandra I AI; Walton, Ronald L RL; Doxsey, Stephen S; Bober, Michael B MB; Jennings, Sarah S; Clark, Karl J KJ; Asmann, Yan Y; Miller, David D; Freeman, William D WD; Meschia, James J; Ross, Owen A OA

Publication Date: 2018-12-04

Variant appearance in text: PKD1: Q4004*

PubMed Link: 30413633

Variant Present in the following documents:

• Main text

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Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Mallawaarachchi, Amali C AC; Furlong, Timothy J TJ; Shine, John J; Harris, Peter C PC; Cowley, Mark J MJ

Publication Date: 2019-06

Variant appearance in text: PKD1: 12010C>T; Gln4004Ter

PubMed Link: 30369598

Variant Present in the following documents:

• Main text

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Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKD.

Human Genomics

de Almeida, Rita M C RM; Clendenon, Sherry G SG; Richards, William G WG; Boedigheimer, Michael M; Damore, Michael M; Rossetti, Sandro S; Harris, Peter C PC; Herbert, Britney-Shea BS; Xu, Wei Min WM; Wandinger-Ness, Angela A; Ward, Heather H HH; Glazier, James A JA; Bacallao, Robert L RL

Publication Date: 2016-11-21

Variant appearance in text: PKD1: Q4004X

PubMed Link: 27871310

Variant Present in the following documents:

• Main text
• 40246_2016_Article_95.pdf

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: PKD1: 12010C>T; Gln4004*

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

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Virtual-tissue computer simulations define the roles of cell adhesion and proliferation in the onset of kidney cystic disease.

Molecular Biology Of The Cell

Belmonte, Julio M JM; Clendenon, Sherry G SG; Oliveira, Guilherme M GM; Swat, Maciej H MH; Greene, Evan V EV; Jeyaraman, Srividhya S; Glazier, James A JA; Bacallao, Robert L RL

Publication Date: 2016-11-07

Variant appearance in text: PKD1: Q4004X

PubMed Link: 27193300

Variant Present in the following documents:

• 3673.pdf

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Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Bullich, Gemma G; Ossowski, Stephan S; Ballarín, José J; Torra, Roser R; Estivill, Xavier X; Ars, Elisabet E

Publication Date: 2014-09

Variant appearance in text: PKD1: 12010C>T; Gln4004*

PubMed Link: 25333066

Variant Present in the following documents:

• Main text
• mgg30002-0412.pdf

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OFD1 and flotillins are integral components of a ciliary signaling protein complex organized by polycystins in renal epithelia and odontoblasts.

Plos One

Jerman, Stephanie S; Ward, Heather H HH; Lee, Rebecca R; Lopes, Carla A M CA; Fry, Andrew M AM; MacDougall, Mary M; Wandinger-Ness, Angela A

Publication Date: 2014

Variant appearance in text: PKD1: Q4004X

PubMed Link: 25180832

Variant Present in the following documents:

• Main text
• pone.0106330.pdf

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A telomerase immortalized human proximal tubule cell line with a truncation mutation (Q4004X) in polycystin-1.

Plos One

Herbert, Brittney-Shea BS; Grimes, Brenda R BR; Xu, Wei Min WM; Werner, Michael M; Ward, Christopher C; Rossetti, Sandro S; Harris, Peter P; Bello-Reuss, Elsa E; Ward, Heather H HH; Miller, Caroline C; Gattone, Vincent H VH; Phillips, Carrie L CL; Wandinger-Ness, Angela A; Bacallao, Robert L RL

Publication Date: 2013

Variant appearance in text: PKD1: Q4004X

PubMed Link: 23383103

Variant Present in the following documents:

• Main text
• pone.0055191.pdf

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Attenuated, flow-induced ATP release contributes to absence of flow-sensitive, purinergic Cai2+ signaling in human ADPKD cyst epithelial cells.

American Journal Of Physiology. Renal Physiology

Xu, Chang C; Shmukler, Boris E BE; Nishimura, Katherine K; Kaczmarek, Elzbieta E; Rossetti, Sandro S; Harris, Peter C PC; Wandinger-Ness, Angela A; Bacallao, Robert L RL; Alper, Seth L SL

Publication Date: 2009-06

Variant appearance in text: PKD1: Q4004X

PubMed Link: 19244404

Variant Present in the following documents:

• Main text

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