Results 51 to 60 of about 46,029 (270)

An Empirical Biomarker-based Calculator for Autosomal Recessive Polycystic Kidney Disease - The Nieto-Narayan Formula

, 2016
Autosomal polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts.
Goldberg, Itzhak D., Narayan, Prakash, Nieto, Jake A., Yamin, Michael A.   +3 more
core   +2 more sources

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16 [PDF]

, 1994
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently results in renal fallure due to progressive cyst development. The major locus, PKD1, maps to 16p13.3.
Breuning, M.H. (Martijn), Brook-Carter, P.T. (Phillip), Buckle, P. (Peter), Cabral, P. (Pedro), Cordeiro, I. (Isabel), Dauwerse, H.G. (Hans), Eussen, H.J.F.M.M. (Bert), Gamble, V. (Vicki), Halley, D.J.J. (Dicky), Harris, P.C. (Peter), Hesseling-Janssen, A.L.W. (Arjenne), Higgs, D. (Douglas), Hughes, J. (Jim), Janssen, L.A.J. (Bart), Kearney, P. (Peter), Lindhout, D. (Dick), MacCarthy, A.B. (Angela), Maheshwar, M.M. (Magitha), Nellist, M.D. (Mark), Ouweland, A.M.W. (Ans) van den, Peral, B. (Belén), Peters, D. (Dorien), Ratcliffe, C., Roelfsema, J.H. (Jeroen), Sampson, J. (Julian), Santos, H. (Heloisa), Saris, J.J. (Jasper), Sloane-Stanley, J. (Jackie), Spruit, L. (Lia), Thomas, S. (Siep), Verhoef, S., Ward, C.J. (Christopher)   +31 more
core   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Incidental renal cell carcinoma presenting in a renal transplant recipient with autosomal dominant polycystic kidney disease: a case report

Journal of Medical Case Reports, 2012
Introduction We report an instructive case of incidental renal cell carcinoma in a patient with autosomal dominant polycystic kidney disease who underwent simultaneous bilateral native nephrectomy and living donor renal transplantation. Case presentation
Misumi Toshihiro, Ide Kentaro, Onoe Takashi, Banshodani Masataka, Tazawa Hirofumi, Teraoka Yoshifumi, Hotta Ryuichi, Yamashita Masahiro, Tashiro Hirotaka, Ohdan Hideki   +9 more
doaj   +1 more source

A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease [PDF]

, 2015
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide.
Al-Mulla, Fahd, Ali, Hamad, Harris, Peter, Hussain, Naser, Kehinde, Elijah, Naim, Medhat, Seaburg, Lauren, Sundsbak, Jamie, Zayed, Mohamed   +8 more
core  

Urine Fetuin-A is a biomarker of autosomal dominant polycystic kidney disease progression. [PDF]

, 2015
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by numerous fluid-filled cysts that frequently result in end-stage renal disease. While promising treatment options are in advanced clinical development,
Bernet, F., Bonny, O., Chehade, H., Constam, D.B., Firsov, D., Guihard, L., Leonhard, W.N., Peters, D.J., Piazzon, N., Piergiovanni, S., Urfer, S., Vogt, B.   +11 more
core   +2 more sources

The emerging role of cellular senescence in renal diseases [PDF]

, 2020
Cellular senescence represents the state of irreversible cell cycle arrest during cell division. Cellular senescence not only plays a role in diverse biological events such as embryogenesis, tissue regeneration and repair, ageing and tumour occurrence ...
Alpini, Gianfranco, Chen, Rong, Francis, Heather, Glaser, Shannon, Li, Siwen, Li, Xuesen, Meng, Fanyin, Wan, Ying, Wu, Nan, Zhang, Chunmei, Zhou, Bingru, Zhou, Tianhao, Zou, Ping   +12 more
core   +1 more source

Compartmentalisation in cAMP signalling: A phase separation perspective

British Journal of Pharmacology, EarlyView.
Cells rely on precise spatiotemporal control of signalling pathways to ensure functional specificity. The compartmentalisation of cyclic AMP (cAMP) and protein kinase A (PKA) signalling enables distinct cellular responses within a crowded cytoplasmic space.
Milda Folkmanaite, Manuela Zaccolo
wiley   +1 more source

Empowering women at the heart of autosomal dominant polycystic kidney disease: Addressing unique challenges gender-sensitive approach

Women's Health
Autosomal dominant polycystic kidney disease is a genetic disorder characterized by the progressive development of renal cysts, leading to end-stage renal disease in a significant proportion of affected individuals. While the disease affects both men and
Micaela Petrone, Francesca Tunesi, Martina Catania, Camilla Gerosa, Sara Farinone, Liliana Italia De Rosa, Kristiana Kola, Matteo Brambilla Pisoni, Paola Maiucchi, Paolo Manunta, Giuseppe Vezzoli, Maria Teresa Sciarrone Alibrandi   +11 more
doaj   +1 more source

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

Acta Medica Lituanica, 2021
Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare.
Dovilė Ruzgienė, Meda Sutkevičiūtė, Birutė Burnytė, Kristina Grigalionienė, Augustina Jankauskienė   +4 more
doaj   +1 more source