Results 91 to 100 of about 23,951 (234)

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  

The miRNA Expression of Urinary Extracellular Vesicles in Patients With Gitelman Syndrome: The Role of hsa‐let‐7d‐3p

The FASEB Journal, Volume 39, Issue 21, 15 November 2025.
This study identifies differentially expressed miRNAs in urinary extracellular vesicles and kidney biopsies from Gitelman syndrome patients. In particular, hsa‐let‐7d‐3p is the only upregulated miRNA that negatively regulates NEDD4L, a key modulator of sodium transport.
Chao‐Ting Chen, Shih‐Hua Lin, Min‐Hsiu Chen, Hsin‐Yi Chang, Min‐Hua Tseng, Yii‐Jwu Lo, Kuan‐Chieh Peng, Che‐Chung Huang, Chih‐Chien Sung   +8 more
wiley   +1 more source

Ruptured intracranial aneurysm and recessive polycystic kidney Disease: A Rare Association

Saudi Journal of Kidney Diseases and Transplantation, 2019
Autosomal recessive polycystic kidney disease (ARPKD) is the most common childhood-onset ciliopathy. Intracranial aneurysms (ICA) are a serious complication of autosomal dominant polycystic kidney disease (ADPKD).
Imed Helal, Insaf Handous, Meriam Khadhar, Hamida Bezzine, Fethi Ben Hamida, Taib Ben Abdallah   +5 more
doaj   +1 more source

Emerging targeted strategies for the treatment of autosomal dominant polycystic kidney disease. [PDF]

, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disease that leads to renal failure in the majority of patients. The very first pharmacological treatment, tolvaptan, received Food and Drug Administration approval in 2018 ...
Bourgeois, Bryan C, Kruger, Samantha L, Shillingford, Jonathan M, Torres, Jacob, Weimbs, Thomas   +4 more
core   +1 more source

Uromodulin storage diseases: clinical aspects and mechanisms. [PDF]

, 2004
The recent discovery of mutations in the uromodulin gene (UMOD) in patients with medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and glomerulocystic kidney disease (GCKD) provides the opportunity for a ...
Agre, Antonio Amoroso, Attar, Auranen, Bachmann, Bates, Bingham, Bingham, Bleyer, Bleyer, Brater, Carson, Chambers, Christodoulou, Ciechanover, Claudia Izzi, Coe, Cox, Dahan, Dahan, Doroti Pirulli, Ellgaard, Emma, Enomoto, Feather, Francesco Scolari, Fukuoka, Gian Marco Ghiggeri, Gianluca Caridi, Giorgio Casari, Gokhale, Gresh, Gusmano, Hart, Hartl, Heptinstall, Hershko, Hession, Hildebrandt, Hildebrandt, Hildebrandt, Hou, Hoyer, Huang, Jovine, Kamatani, Kaufman, Kobayashi, Kotanko, Kroiss, Kudo, Leal-Pinto, Luca Rampoldi, Maesaka, Mattey, Mayrer, McQueen, Melnick, Miyake, Mo, Nauli, Oh, Olbrich, Ong, Orskov, Otto, Otto, Pahl, Pak, Parkkinen, Pennica, Prasadan, Rampoldi, Regina Tardanico, Resnick, Rezende-Lima, Sanders, Schroter, Scolari, Scolari, Serafini-Cessi, Sharp, Simon, Stiburkova, Stiburkova, Su, Taulman, Thomas, Torffvit, Turner, Wang, Wangsiripaisan, Wilson, Wolf, Worcester, Woronik, Wu, Ying, Yoder, Yu, Zager   +100 more
core   +1 more source

Incidental Diagnosis of Situs Inversus Totalis in a 45‐Year‐Old Male Who Presented With Acute Asthma Exacerbation: A Case Report and Brief Literature Review

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Incidental situs inversus totalis (SIT) requires thorough anatomical mapping to exclude associated syndromes (e.g., Kartagener) and congenital anomalies. Early identification, patient education on mirrored anatomy, and multidisciplinary coordination are essential to prevent iatrogenic errors during future interventions, even in asymptomatic ...
Ragasa Getachew Bayisa, Lensa Million Baharu, Mohammed Mecha Abafogi, Yosef Bekele Bonsa, Mohammed Kedir Shukri, Tamirat Godebo Woyimo   +5 more
wiley   +1 more source

Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: Report of five infants [PDF]

, 2001
Five infants (two girls and three boys) from four families all had severe pre- and post-natal growth retardation, profound developmental delay, microcephaly, hypoplasia of the brain with Dandy-Walker complex or other posterior fossa malformations, and ...
Galjaard, R-J.H. (Robert-Jan), Haelst, M.M. (Mieke) van, Hennekam, R.C.M. (Raoul), Hollander, N.S. (Nicolette) den, Hoogeboom, J. (Jeanette), Kleijer, W.J. (Wim), Krijger, R.R. (Ronald) de, Niermeijer, M.F. (Martinus)   +7 more
core   +1 more source

Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification

Prenatal Diagnosis, Volume 45, Issue 12, Page 1671-1674, November 2025.
ABSTRACT Ductal plate malformations (DPM) encompass a spectrum of congenital liver disorders characterized by abnormal bile duct development, often associated with conditions such as Caroli disease. Variants in the PKHD1 gene cause a wide spectrum of DPM, but genotype–phenotype correlations remain challenging.
Mario Abaji, Laurent Nasca, Marie‐Pierre Audrezet, Bénédicte Gerard, Xavier Vanhoye, Cécile Chau, Claude D’Ercole, Annie Levy‐Mozziconacci   +7 more
wiley   +1 more source

Diagnostic value of fetal MRI in evaluating fetal urinary anomalies

The Egyptian Journal of Radiology and Nuclear Medicine, 2015
Purpose: To detect the accuracy of fetal MRI in diagnosing urinary tract anomalies in comparison with ultrasonographic findings and fetal outcome. Methods: We examined 30 fetuses with sonographically suspected congenital urinary tract anomalies by 2D/3D ...
Noha Hosam El Din Behairy, Lamiaa Adel Salah El Din, Naglaa Mohamed Fahmy Hanoun, Maged Abd El Raof, Mohamed Abd El Kader Ali   +4 more
doaj   +1 more source

Translation, cultural adaptation and aplication of a pain questionnaire for patients with polycystic kidney disease [PDF]

, 2010
INTRODUCTION: Pain is a common symptom in patients with autosomal dominant polycystic kidney disease (ADPKD), affecting around 60% of cases. OBJECTIVE: Translate a pain questionnaire developed and validated for ADPKD in USA into Portuguese and to perform
Eloi, Samara Rodrigues Moreira, Heilberg, Ita Pfeferman, Nishiura, José Luiz   +2 more
core   +2 more sources