PKD2 recurrent haplotype in ADPKD patients

被引：0
|
作者：
Corradi, Valentina [1 ,2 ]
Caprara, Carlotta [1 ,2 ]
Rigato, Matteo [1 ]
Mancini, Barbara
Marzano, Nenzi [2 ]
Giuliani, Anna [1 ]
Perbellini, Omar [3 ]
Gastaldon, Fiorella [1 ]
Ronco, Claudio [2 ]
Zanella, Monica [1 ,2 ]
机构：
[1] AULSS 8 Berica Osped San Bortolo, UOC Nephrol, Vicenza, Italy
[2] Int Renal Res Inst Vicenza IRRIV Fdn, Vicenza, Italy
[3] AULSS 8 Berica Osped San Bortolo, UOSD Genet & Genom Diagnost, Vicenza, Italy
来源：
NEPHROLOGY DIALYSIS TRANSPLANTATION | 2024年 / 39卷
关键词：
D O I：
暂无
中图分类号：
R3 [基础医学]; R4 [临床医学];
学科分类号：
1001 ; 1002 ; 100602 ;
摘要：
2498
引用
收藏
页码：I1943 / I1943
页数：1
相关论文
共 50 条
  • [1] PKD2 recurrent haplotype in ADPKD patients
    Corradi, Valentina
    Caprara, Carlotta
    Rigato, Matteo
    Mancini, Barbara
    Marzano, Nenzi
    Giuliani, Anna
    Perbellini, Omar
    Gastaldon, Fiorella
    Ronco, Claudio
    Zanella, Monica
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39
  • [2] THE NEW MUTATION IN PKD2 FOR EARLY ONSET OF ADPKD
    Saraga, Marijan
    Fridl, Vesna
    Tomas, Sandra Zekic
    Arapovic, Adela
    Prgomet, Sandra
    Culic, Vida
    PEDIATRIC NEPHROLOGY, 2017, 32 (09) : 1759 - 1759
  • [3] SHOULD WE CONSIDER ADPKD NEW TARGETED THERAPIES IN PKD2 PATIENTS?
    Cornec-Le Gall, Emilie
    Audrezet, Marie-Pierre
    Renaudineau, Eric
    Hourmant, Maryvonne
    Charasse, Christophe
    Vigneau, Cecile
    Longuet, Helene
    Bridoux, Frank
    Mandart, Lise
    Wehbe, Bassem
    Depraetre, Pascale
    Ferec, Claude
    Le Meur, Yannick
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2016, 31 : 55 - 55
  • [4] De-repression of Pkd1 or Pkd2 attenuates ADPKD
    不详
    NATURE REVIEWS NEPHROLOGY, 2022, 18 (11) : 679 - 679
  • [5] Mutational screening of PKD1 and PKD2 in Indian ADPKD patients identified 95 genetic variants
    Raj, Sonam
    Singh, Rana Gopal
    Das, Parimal
    MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2020, 821
  • [6] Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
    Pandita, Shewata
    Ramachandran, Vijaya
    Balakrishnan, Prahlad
    Rolfs, Arndt
    Brandau, Oliver
    Eichler, Sabrina
    Bhalla, Anil Kumar
    Khullar, Dinesh
    Amitabh, Vindu
    Ramanarayanan, Sivaramakrishnan
    Kher, Vijay
    Verma, Jyotsna
    Kohli, Sudha
    Saxena, Renu
    Verma, Ishwar Chancier
    JOURNAL OF HUMAN GENETICS, 2019, 64 (05) : 409 - 419
  • [7] Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
    Shewata Pandita
    Vijaya Ramachandran
    Prahlad Balakrishnan
    Arndt Rolfs
    Oliver Brandau
    Sabrina Eichler
    Anil Kumar Bhalla
    Dinesh Khullar
    Vindu Amitabh
    Sivaramakrishnan Ramanarayanan
    Vijay Kher
    Jyotsna Verma
    Sudha Kohli
    Renu Saxena
    Ishwar Chander Verma
    Journal of Human Genetics, 2019, 64 : 409 - 419
  • [8] Phenotypic Characterization of Patients with ADPKD with PKD1 and PKD2 Pathogenic Variants Using Advanced Imaging Biomarkers
    Borghol, Abdul Hamid
    Munairdjy Debeh, Fadi George
    Ghanem, Ahmad
    Paul, Stefan N.
    Alkhatib, Bassel
    Nader, Nay
    Gregory, Adriana
    Yang Hana
    Hanna, Christian
    Dahl, Neera K.
    Kline, Timothy L.
    Harris, Peter C.
    Chebib, Fouad T.
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2024, 35 (10):
  • [9] The ADPKD genes pkd1a/b and pkd2 regulate extracellular matrix formation
    Mangos, Steve
    Lam, Pui-ying
    Zhao, Angela
    Liu, Yan
    Mudumana, Sudha
    Vasilyev, Aleksandr
    Liu, Aiping
    Drummond, Iain A.
    DISEASE MODELS & MECHANISMS, 2010, 3 (5-6) : 354 - 365
  • [10] Mutation analysis of the PKD1 and PKD2 gene in patients with autosomal dominant polycystic kidney disease (ADPKD).
    Kim, UK
    Lee, CC
    Lee, KB
    Kim, DJ
    Oh, MR
    Kim, JS
    Lee, K
    Jin, DK
    KIDNEY INTERNATIONAL, 1999, 55 (04) : 1599 - 1599
12345