PKD1/TSC2 contiguous gene deletion syndrome

被引：0
|
作者：
Sundaram, Madhivanan [1 ]
Kookana, Anil [1 ]
Duncan, Henry [1 ]
Mathew, Ravi [1 ]
机构：
[1] Royal Darwin Hosp, Dept Med, Div Nephrol, Tiwi, NT, Australia
来源：
NEPHROLOGY | 2017年 / 22卷 / 08期
关键词：
D O I：
10.1111/nep.12847
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：656 / 657
页数：2
相关论文
共 50 条
  • [31] A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease
    Longa, L
    Scolari, F
    Brusco, A
    Carbonara, C
    Polidoro, S
    Valzorio, B
    Riegler, P
    Migone, N
    Maiorca, R
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 1997, 12 (09) : 1900 - 1907
  • [32] Single Gene Mutations in Pkd1 or Tsc2 Alter Extracellular Vesicle Production and Trafficking
    Kumar, Prashant
    Zadjali, Fahad
    Yao, Ying
    Koettgen, Michael
    Hofherr, Alexis
    Gross, Kenneth W.
    Mehta, Darshan
    Bissler, John J.
    BIOLOGY-BASEL, 2022, 11 (05):
  • [33] Single Gene Mutations in Pkd1 or Tsc2 Alter Extracellular Vesicles Production and Trafficking
    Bissler, John J.
    Kumar, Prashant
    Al-Zadjali, Fahad
    Yao, Ying
    Hofherr, Alexis
    Kottgen, Michael
    Mehta, Darshan
    Gross, KennethW.
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2022, 33 (11): : 396 - 396
  • [34] Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated
    Cabrera-Lopez, Cristina
    Bullich, Gemma
    Marti, Teresa
    Catala, Violeta
    Ballarin, Jose
    Bissler, John J.
    Harris, Peter C.
    Ars, Elisabet
    Torra, Roser
    BMC MEDICAL GENETICS, 2015, 16
  • [35] Cutaneous white spots in a child with polycystic kidneys: a clue to TSC2/PKD1 gene mutation
    Sperandio, M
    Weber, L
    Jauch, A
    Janssen, B
    Mehls, O
    Schaefer, F
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2000, 15 (06) : 909 - 912
  • [36] TSC2-PKD1 contiguous gene syndrome in an infant with multiorgan involvement
    Bekassy, Z.
    Bjorkhem, G.
    Bynke, G.
    Lundgren, J.
    Landehag, J.
    PEDIATRIC NEPHROLOGY, 2007, 22 (09) : 1509 - 1509
  • [37] Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome
    Dauwerse, JG
    Bouman, K
    van Essen, AJ
    van der Hout, AH
    Kolsters, G
    Breuning, MH
    Peters, DJM
    JOURNAL OF MEDICAL GENETICS, 2002, 39 (02) : 136 - 141
  • [38] A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease
    Longa, L
    Brusco, A
    Carbonara, C
    Polidoro, S
    Scolari, F
    Valzorio, B
    Riegler, P
    Tardanico, R
    Migone, N
    HEREDITARY KIDNEY DISEASES, 1997, 122 : 91 - 95
  • [39] A severe renal phenotype resulting from a TSC2 mutation without involvement of the PKD1 gene.
    Au, KS
    Roach, ES
    Northrup, H
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A325 - A325
  • [40] NOVEL CONTIGUOUS GENE DISORDER OF PKD1, TSC2 AND NTHL1 LEADING TO CORRESPONDING KIDNEY DISEASES AND MULTIPLE AND PATHOLOGICALLY DIVERSE RENAL CELL CARCINOMAS
    Meguro, Satoru
    Koguchi, Tomoyuki
    Endo, Yu
    Yaginuma, Kei
    Harigane, Yuki
    Matsuoka, Yuta
    Imai, Hitomi
    Yoshida, Yuki
    Onagi, Akifumi
    Matsuoka, Kanako
    Hoshi, Seiji
    Hata, Junya
    Sato, Yuichi
    Akaihata, Hidenori
    Kataoka, Masao
    Uemura, Motohide
    Kojima, Yoshiyuki
    JOURNAL OF UROLOGY, 2023, 209 : E35 - E35
12345