Results 41 to 50 of about 624,431 (182)

DataSheet1_Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2.PDF

, 2023
Renal hypouricemia (RHUC) is a pathological condition characterized by extremely low serum urate and overexcretion of urate in the kidney; this inheritable disorder is classified into type 1 and type 2 based on causative genes encoding physiologically ...
Jaeho Yoon (211718), Yu Toyoda (2826734), Jana Bohatá (11108907), Anna Pallaiova (14434167), Velibor Tasic (191539), Jana Šaligová (14434170), Darryl Nousome (525651), Sung Kweon Cho (14434161), Victor A. David (14434164), Cheryl A. Winkler (7923875), Blanka Stibůrková (564063), Tappei Takada (2826728), Raul Cachau (14434173), Kateřina Pavelcová (9310184), Hiroshi Suzuki (8180)   +14 more
core   +1 more source

Recurrent exercise-induced acute kidney injury associated with hypouricemia: a case report and literature review

BMC Nephrology, 2023
Background Hereditary renal hypouricemia (RHUC) is a heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA.
Jie Zhou, Min Zhang, Qionghong Xie, Ningxin Xu, Mingxin Li, Ming Zhang, Chuanming Hao   +6 more
doaj   +1 more source

Homozygous mutations of GLUT9 cause severe renal hypouricemia

, 2009
Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown.
Sawyer, Lindsay, Amariglio, Ninette, Campbell, Susan, Shu, Xinhua, Richardson, William, Gray, Nicola K., Rechavi, Gideon, Dinour, Dganit, S. Campbell, L. Sawyer, E. J. Holtzman, J. Weissgarten, A. F. Wright, N. K. Gray, G. Rechavi, M. R. Millar, X. Shu, N. Amariglio, D. Dinour, M. Goldman, B.-A. Sela, L. Ganon, H. Bahat, W. Richardson   +23 more
core   +1 more source

Raising Awareness Towards Underdiagnosed Renal Hypouricemia: A Case Report

Revista Portuguesa de Nefrologia e Hipertensão, 2023
Renal hypouricemia (RHUC) is an autosomal recessive disease caused by the dysfunction of uric acid (UA) transporters in the proximal tubule causing increased fractional excretion of uric acid (FEUA).
Pedro Lisboa-Gonçalves, Filipa Ferreira, Isabel Tavares, João Paulo Oliveira   +3 more
doaj   +1 more source

Benzofuran‐Based Uricosuric Agents: History, Roles, and Challenges

ChemistrySelect, Volume 11, Issue 24, 25 June 2026.
Benzofuran‐based uricosuric agents represent a privileged medicinal chemistry scaffold for gout therapy. Structural optimization of benzbromarone‐related derivatives has improved hURAT1 inhibitory potency, metabolic stability, and urate‐lowering efficacy, while reducing hepatotoxic liability.
Raed M. Al‐Zoubi, Basma Hanbali, Mai Elaarag, Zainab Fares, Enas A. Al‐Hurani, Sally R. Al‐Zoubi, Mohanad Shkoor, Abdelali Agouni   +7 more
wiley   +1 more source

Xenotransplantation Literature Update: July–December 2025

Xenotransplantation, Volume 33, Issue 2, March/April 2026.
ABSTRACT The second half of 2025 marked a significant transition for xenotransplantation, shifting further from experimental feasibility to early clinical translation. Prolonged physiologic support from genetically engineered porcine kidneys and livers in human recipients provided unprecedented insight into organ compatibility, rejection dynamics, and ...
Kasra Shirini, Joseph M. Ladowski, Niket Harsh, Raphael P. H. Meier   +3 more
wiley   +1 more source

Causes of hypouricemia among outpatients

, 2008
Background: The aim of this study was no examine the ratio and underlying causes of hypouricemia in patients visiting our outpatient clinics.
BALABAN, HATİCE YASEMİN, Balaban, Yasemin, BUĞDAYCI, GÜLER, Sahin, Ozlem   +3 more
core   +1 more source

Acute Gout Flare After Carboplatin/5‐Fluorouracil for Locally Advanced Head and Neck Squamous Cell Carcinoma

Cancer Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer globally. For locally advanced cases when upfront surgery or radiation are not feasible, a platinum agent (carboplatin or cisplatin) with 5‐fluorouracil (carbo‐5FU) and immunotherapy is the standard of care.
Henry Zou, Anas Al Janadi, Zeyad Sako
wiley   +1 more source

The V‐Shaped Hamilton Receptors: A Paradigmatic Multipurpose Scaffold

ChemistryOpen, Volume 15, Issue 1, January 2026.
This manuscript explores the historical context and significance of molecular recognition in relation to Hamilton‐type receptors. It concludes with a discussion on future prospects for the development of novel functionalized Hamilton‐type receptors. It is hoped that this collection will offer new insights and directions for the supramolecular chemistry
Shafieq Ahmad Wagay, Rashid Ali
wiley   +1 more source

Unraveling Fanconi Syndrome: Severe Proximal Tubulopathy, Osteomalacia in a 27‐Year‐Old Male on TDF‐Based HIV Regimen: A Case Report

Case Reports in Nephrology, Volume 2026, Issue 1, 2026.
This case report delves into the complex presentation of Fanconi syndrome (FS) associated with tenofovir disoproxil fumarate (TDF) use in a 27‐year‐old male diagnosed with HIV. The patient exhibited severe proximal tubulopathy and osteomalacia, emphasizing the need for vigilant monitoring in individuals on TDF‐based regimens.
Lavender Otom, Ben Lomatayo, Farida Kaittany, Priyanka Panwar, Ze’ev Korzets   +4 more
wiley   +1 more source