Results 61 to 70 of about 2,428 (197)

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene

Clinical Case Reports, Volume 14, Issue 3, March 2026.
A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco, Stefania Magliulo, Chiara Di Marco, Elisa Fortuna, Alessandra Terracciano, Claudio Meloni   +5 more
wiley   +1 more source

Glycolytic alterations as biomarkers in polycystic kidney disease: A study using a PKD1 knockout model in NRK‐52E rat kidney epithelial cells

Physiological Reports, Volume 14, Issue 6, March 2026.
CRISPR–Cas9–mediated PKD1 knockout in NRK‐52E rat kidney epithelial cells induces glycolytic reprogramming. Hyperpolarized [1‐13C]pyruvate magnetic resonance spectroscopy reveals increased pyruvate‐to‐lactate conversion accompanied by elevated lactate dehydrogenase activity and altered monocarboxylate transporter expression.
Ida Kjær Mieritz, Christoffer Laustsen, Esben Axelgaard, Sofie Rahbek Dorset, Rasmus O. Bak, Lotte Bonde Bertelsen   +5 more
wiley   +1 more source

Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling [PDF]

, 2018
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a genetic disorder with an incidence of ~1:20,000 that manifests in a wide range of renal and liver disease severity in human patients and can lead to perinatal mortality.
Norman, Jill, Norman, J, Modarage, Kavindiya, McCarthy-Boxer, A, Dean, Charlotte, Hilton, Helen, Richards, T, Goggolidou, Paraskevi, Dean, C, Goggolidou, P, McCarthy-Boxer, Aidan, Wilson, P, Hilton, H, Esapa, C, Wilson, Patricia, Richards, Taylor, Esapa, Chris, Modarage, K   +17 more
core   +1 more source

Prävalenz und Komplikationen der hepatischen Manifestation bei Patienten mit ARPKD. Analyse anhand einer internationalen multizentrischen Kohorte [PDF]

, 2023
Das ARegPKD-Register ist ein internationales multizentrisches Register zur Erfassung von Patienten mit ARPKD und der Dokumentation des jeweiligen Krankheitsverlaufs.
Leidig, Benjamin
core   +1 more source

Defects of renal tubular homeostasis and cystogenesis in the Pkhd1 knockout

iScience
Summary: Loss of PKHD1-gene function causes autosomal recessive polycystic kidney disease (ARPKD) characterized by bilateral severely enlarged kidneys and congenital liver fibrosis requiring kidney replacement therapy most frequently during childhood ...
Julia C. Fox, Susanne T. Hahnenstein, Fatima Hassan, Andrea Grund, Dieter Haffner, Wolfgang H. Ziegler   +5 more
doaj   +1 more source

Association Between Serum Vitamin D Levels and Mortality in Children Receiving Chronic Dialysis: A Retrospective Cohort Study

Health Science Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background Vitamin D deficiency is highly prevalent among children on regular dialysis, affecting approximately 90% of patients. This deficiency (serum 25‐hydroxyvitamin D < 50 nmol/L or 20 ng/mL) is associated with various complications, including skeletal problems, increased infection risk, arterial stiffness, vascular calcification, and ...
Sima Shamshiri Khamene, Izat Mohammad Khawajah, Mastaneh Moghtaderi   +2 more
wiley   +1 more source

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

BMC Nephrology, 2020
Background PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood.
Elisa Molinari, Shalabh Srivastava, Rebecca M. Dewhurst, John A. Sayer   +3 more
doaj   +1 more source

Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review

BMC Pregnancy and Childbirth, 2021
Background Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare.
Xiuzhen Yao, Weiqun Ao, Jianhua Fang, Guoqun Mao, Chuanghua Chen, Lifang Yu, Huaijie Cai, Chenke Xu   +7 more
doaj   +1 more source

Recent Developments in Capillary and Microchip Electroseparations of Peptides (2023–mid 2025)

ELECTROPHORESIS, Volume 47, Issue 1, Page 106-136, January 2026.
ABSTRACT This review presents a comprehensive overview of the developments and applications of high‐performance capillary and microchip electromigration methods (zone electrophoresis in a free solution or in sieving media, isotachophoresis, isoelectric focusing, affinity electrophoresis, electrokinetic chromatography, and electrochromatography) for ...
Václav Kašička
wiley   +1 more source

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen

, 1994
Autosomal recessive polycystic kidney disease (ARPKD) is one of the major hereditary nephropathies in children predominantly presently in early childhood. The clinical picture is variable but there is a fatal outcome in many cases.
Rudnik-Schöneborn, S., Eggermann, T., Kääriäinen, Helena, B. Wirth, Rudnik-Schöneborn, Sabine, K. E. von Mühlendahl, Deschênes, Georges, Schärer, K., Zerres, Klaus, Y. Pirson, Pirson, Yves, Zerres, K., G. Deschennes, Knapp, M., K. Zerres, V. Steinbicker, M. Knapp, T. Lennert, von Mühlendahl, K.E., Mücher, G., Kääriäinen, H., L. Bachner, Misselwitz, J., S. Rudnik-Schöneborn, Lennert, T., Misselwitz, Joachim, Mühlendahl, K. E. von, Wirth, Brunhilde, Eggermann, Thomas, Neumann, Hartmut P. H., Bachner, L., T. Eggermann, Lennert, Thomas, G. Mücher, Neumann, H.P.H., J. Misselwitz, Deschennes, G., Wirth, B., Bachner, Lucien, Steinbicker, V., H. Kääriäinen, K. Schärer, H. P. H. Neumann   +42 more
core   +1 more source