日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants

与单等位基因ALG8和ALG9致病变异相关的囊性表型的特征

Jawaid, Tabinda; Elbarougy, Doaa E; Lavu, Sravanthi; Buia, Guillaume; Senum, Sarah R; Olinger, Eric; Yang, Hana; McDonnell, Shannon K; Bublitz, Joshua T; Ma, Jun; Audrézet, Marie-Pierre; Madsen, Charles D; Schauer, Rachel S; Baker, Tracy A; Gregory, Adriana V; Orr, Sarah E; Barroso-Gil, Miguel; Neatu, Ruxandra; Joli, Giancarlo; Dahl, Neera K; Kline, Timothy L; Gillion, Valentine; Dahan, Karin; Jouret, Francois; Perrone, Ronald D; Steinman, Theodore I; Peters, Dorien J M; Gitomer, Berenice Y; Watnick, Terry J; Coto, Eliecer; Chebib, Fouad T; Hogan, Marie C; Olson, Janet E; Larson, Nicholas B; Ars, Elisabet; Halbritter, Jan; Demoulin, Nathalie; Torres, Vicente E; Sayer, John A; Cornec-Le Gall, Emilie; Harris, Peter C

Characteristics of patients with autosomal polycystic kidney disease reaching kidney failure by age 40

40岁前发展为肾衰竭的常染色体多囊肾病患者的特征

Wigerinck, Stijn; Schellekens, Pieter; Smith, Byron H; Hanna, Christian; Dachy, Angelique; Chedid, Maroun; Borghol, Abdul Hamid; Senum, Sarah R; Bockenhauer, Detlef; Harris, Peter C; Jouret, Francois; Bammens, Bert; Chebib, Fouad T; Mekahli, Djalila

The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease

继发性、罕见、非致病性PKD1变异对常染色体显性多囊肾病疾病进展的影响

Elhassan, Elhussein A E; Collins, Kane E; Heneghan, Sophia; Gilbert, Edmund; Yang, Hana; Senum, Sarah R; Schauer, Rachel S; Elbarougy, Doaa E; Madden, Stephen F; Murray, Susan L; Sadeghi-Alavijeh, Omid; Carmichael, Joshua; Gale, Daniel; Osman, Shohdan M; Kennedy, Claire; Griffin, Matthew D; Casserly, Liam; Moloney, Brona; O'Hara, Paul; Mallawaarachchi, Amali; Ciurli, Francesca; Graziano, Claudio; Wolff, Constantin A; Schönauer, Ria; LaManna, Gaetano; Durand, Axelle; Limou, Sophie; Halbritter, Jan; Capelli, Irene; McCann, Emma; Harris, Peter C; Cavalleri, Gianpiero L; Benson, Katherine A; Conlon, Peter J

Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts

通过对人类肾囊肿进行深度测序,揭示了常染色体显性多囊肾病中的体细胞突变

Mallawaarachchi, Amali C; Hort, Yvonne; Wedd, Laura; Lo, Kitty; Senum, Sarah; Toumari, Mojgan; Chen, Wenhan; Utsiwegota, Mike; Mawson, Jane; Leslie, Scott; Laurence, Jerome; Anderson, Lyndal; Snelling, Paul; Salomon, Robert; Rangan, Gopala K; Furlong, Timothy; Shine, John; Cowley, Mark J

PKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients

PKD1截断突变加速常染色体显性多囊肾病患者的eGFR下降

Ali, Hamad; Alahmad, Barrak; Senum, Sarah R; Warsame, Samia; Bahbahani, Yousif; Abu-Farha, Mohamed; Abubaker, Jehad; Alqaddoumi, Malak; Al-Mulla, Fahd; Harris, Peter C

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

丝氨酸/苏氨酸激酶 NEK8 激酶结构域中的某些杂合变异可导致常染色体显性多囊肾病

Laura R Claus, Chuan Chen, Jennifer Stallworth, Joshua L Turner, Gisela G Slaats, Alexandra L Hawks, Holly Mabillard, Sarah R Senum, Sujata Srikanth, Heather Flanagan-Steet, Raymond J Louie, Josh Silver, Jordan Lerner-Ellis, Chantal Morel, Chloe Mighton, Frank Sleutels, Marjon van Slegtenhorst, Tjak

The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait

科威特常染色体显性多囊肾病的遗传图谱

Ali, Hamad; Naim, Medhat; Senum, Sarah R; AlSahow, Ali; Bahbahani, Yousif; Abu-Farha, Mohamed; Abubaker, Jehad; Mohammad, Anwar; Al-Hunayan, Adel; Asbeutah, Akram M; Zayed, Mohamed; Devarajan, Sriraman; Hussain, Naser; John, Sumi Elsa; Channanath, Arshad; Thanaraj, Thangavel Alphonse; Al-Ali, Mohammad; AlMousawi, Mustafa; Al-Mulla, Fahd; Harris, Peter C

Evaluation of advanced imaging biomarkers at kidney failure in patients with ADPKD: a pilot study

评估 ADPKD 患者肾衰竭时高级影像生物标志物:一项初步研究

Wigerinck, Stijn; Gregory, Adriana V; Smith, Byron H; Iliuta, Ioan-Andrei; Hanna, Christian; Chedid, Maroun; Kaidbay, Hasan-Daniel N; Senum, Sarah R; Shukoor, Shebaz; Harris, Peter C; Torres, Vicente E; Kline, Timothy L; Chebib, Fouad T

Bone health in autosomal dominant polycystic kidney disease (ADPKD) patients after kidney transplantation

肾移植后常染色体显性多囊肾病(ADPKD)患者的骨骼健康状况

Zubidat, Dalia; Hanna, Christian; Randhawa, Amarjyot K; Smith, Byron H; Chedid, Maroun; Kaidbay, Daniel-Hasan N; Nardelli, Luca; Mkhaimer, Yaman G; Neal, Reem M; Madsen, Charles D; Senum, Sarah R; Gregory, Adriana V; Kline, Timothy L; Zoghby, Ziad M; Broski, Stephen M; Issa, Naim S; Harris, Peter C; Torres, Vicente E; Sfeir, Jad G; Chebib, Fouad T

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

IFT140单等位基因致病变异是常染色体显性多囊肾表型的重要病因。

Senum, Sarah R; Li, Ying Sabrina M; Benson, Katherine A; Joli, Giancarlo; Olinger, Eric; Lavu, Sravanthi; Madsen, Charles D; Gregory, Adriana V; Neatu, Ruxandra; Kline, Timothy L; Audrézet, Marie-Pierre; Outeda, Patricia; Nau, Cherie B; Meijer, Esther; Ali, Hamad; Steinman, Theodore I; Mrug, Michal; Phelan, Paul J; Watnick, Terry J; Peters, Dorien J M; Ong, Albert C M; Conlon, Peter J; Perrone, Ronald D; Cornec-Le Gall, Emilie; Hogan, Marie C; Torres, Vicente E; Sayer, John A; Harris, Peter C