Results 91 to 100 of about 2,905 (217)

Multi-parametric MRI of Kidney Disease Progression for Autosomal Recessive Polycystic Kidney Disease (ARPKD): Mouse Model and Initial Patient Results

Pediatric Research, 2020
Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare but potentially lethal genetic disorder typically characterized by diffuse renal microcysts.
Christina J MacAskill, B. Erokwu, Michael Markley, Ashlee Parsons, S. Farr, Yifan Zhang, U. Tran, Yong Chen, C. E. Anderson, S. Serai, Erum A. Hartung, O. Wessely, D. Ma, K. Dell, C. Flask   +14 more
semanticscholar   +1 more source

PKHD1 gene mutation analysis in two families of perinatal stage autosomal recessive polycystic kidney disease

Linchuang shenzangbing zazhi
Objective To analyze genetic variation in two cases of autosomal recessive polycystic kidney disease （ARPKD） and provide theoretical rationales for its early diagnosis， treatment， genetic counseling and prenatal diagnosis.
Lan Zeng, Qi-yan Wang, Yi Deng, Dan-ni Wang, Shu-yao Zhu, Jin Wang   +5 more
doaj   +1 more source

The Impact of Reduced Immunosuppression on Alloimmunity: A Retrospective Study of Pediatric Kidney Transplant Recipients

Pediatric Transplantation, Volume 28, Issue 7, November 2024.
Reduced mycophenolate mofetil with a sufficient trough tacrolimus level in a population of mainly corticosteroid‐free pediatric kidney transplant recipients did not lead to unacceptable alloimmunity. ABSTRACT Background Kidney transplantation is the best treatment for end‐stage kidney disease but requires immunosuppressive medications, which have ...
Ann‐Maria Gramkow, Johanne H. Baatrup, Emilie T. Gramkow, Pernille Koefoed‐Nielsen, Per Wittenhagen, Helle C. Thiesson   +5 more
wiley   +1 more source

The carboxy‐terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC‐activation

Journal of Cellular and Molecular Medicine, 2020
Autosomal recessive polycystic kidney disease (ARPKD) is mainly caused by variants in the PKHD1 gene, encoding fibrocystin (FC), a large transmembrane protein of incompletely understood cellular function. Here, we show that a C‐terminal fragment of human
C. Dafinger, Amrei M. Mandel, Alina Braun, H. Göbel, K. Burgmaier, L. Massella, A. Mastrangelo, J. Dötsch, T. Benzing, T. Weimbs, B. Schermer, M. Liebau   +11 more
semanticscholar   +1 more source

Organoids: development and applications in disease models, drug discovery, precision medicine, and regenerative medicine

MedComm, Volume 5, Issue 10, October 2024.
Four main applications of organoids. The main applications of organoids include the construction of disease models, drug screening and toxicity evaluation, precision medicine, and regenerative medicine. Abstract Organoids are miniature, highly accurate representations of organs that capture the structure and unique functions of specific organs ...
Qigu Yao, Sheng Cheng, Qiaoling Pan, Jiong Yu, Guoqiang Cao, Lanjuan Li, Hongcui Cao   +6 more
wiley   +1 more source

An uncommon cause of portal hypertension in a toddler

International Journal of Advanced Medical and Health Research, 2017
Autosomal recessive polycystic kidney disease (ARPKD) affects the liver and the kidney. Renal involvement presents early in life, whereas hepatic involvement manifests slightly later with portal hypertension.
Sudipta Mohakud, Saraswata Das, Pradeep Sharma, Lipsa Das, Suprava Naik, N Deep   +5 more
doaj   +1 more source

Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report

Clinical Case Reports, Volume 12, Issue 7, July 2024.
Sagittal US scans of the left (A) and right (B) kidneys at 21 weeks and 6 days of gestation showing bilateral hyperechogenic nondifferentiated kidneys of normal size. Key Clinical Message Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content.
Osaretin Pamela Aigbogun, Noémie Vancoppenolle, Sandra Coppens, Martina Marangoni, Elodie Elsen, Marie Cassart, Caroline Gounongbe   +6 more
wiley   +1 more source

Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models.

Journal of the American Society of Nephrology, 2019
BACKGROUND Autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct, with ADPKD usually caused by the genes PKD1 or PKD2 (encoding polycystin-1 and polycystin-2, respectively)
R. Olson, Katharina Hopp, Harrison H. Wells, Jessica M. Smith, Jessica Furtado, M. Constans, Diana L Escobar, A. Geurts, V. Torres, P. Harris   +9 more
semanticscholar   +1 more source

Purinergic Receptors Profile in the ARPKD Cystic Epithelia

The FASEB Journal, 2018
Polycystic kidney diseases (PKD) are a group of inherited nephropathies marked with the formation of fluid‐filled cysts along the nephron. Growing evidence suggests that autocrine and paracrine effects of purinergic signaling via P2 receptors could detrimentally contribute to cyst expansion.
Oleg Palygin, Daria V. Ilatovskaya, Vladislav Levchenko, Tengis Pavlov, Alexander Staruschenko   +4 more
openaire   +1 more source

Hepatopancreaticobiliary pathology in the PCK model of ARPKD

The FASEB Journal, 2010
Autosomal Recessive Polycystic Kidney Disease (ARPKD) results in renal and hepatic fibrocystic pathology. This study evaluated hepatobiliary pathology in PCK rats, an orthologous model of slowly progressive ARPKD. Male and female rats were evaluated from 4–35 weeks, quantifying organ growth, serology, bile flow
Stephen Bruce Mason, Tracy Eggleston‐Gulyas, Xianyin Lai, Frank A. Witzmann, Vincent H. Gattone   +4 more
openaire   +1 more source