Results 41 to 50 of about 628,301 (302)

Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice [PDF]

open access: yes, 2019
Atypical hemolytic uremic syndrome (aHUS) is frequently associated in humans with loss-of-function mutations in complement-regulating proteins or gain-of-function mutations in complement-activating proteins.
Atkinson, John P   +11 more
core   +3 more sources

Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract [PDF]

open access: yesInvestigative and Clinical Urology, 2017
The definition of congenital anomalies of the kidney and urinary tract (CAKUT) is the disease of structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux (VUR).
Keum Hwa Lee, Heon Yung Gee, Jae Il Shin
doaj   +1 more source

Genetic linkage study of family members of a patient with adult polycystic kidney disease [PDF]

open access: yes, 1999
OBJECTIVE. To study the feasibility of making an early diagnosis of adult polycystic kidney disease by using genetic linkage analysis in Hong Kong. DESIGN. Genetic linkage study. SETTING. University teaching hospital, Hong Kong. PARTICIPANTS.
Chan, DTM   +4 more
core  

Genomics and precision medicine for clinicians and scientists in hypertension [PDF]

open access: yes, 2017
No abstract ...
Delles, Christian   +2 more
core   +1 more source

Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle   +5 more
wiley   +1 more source

PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports

open access: yesFrontiers in Pediatrics, 2022
Paired box 2 (PAX2)-related disorder is an autosomal dominant genetic disorder associated with kidney and eye abnormalities and can result in end stage renal disease (ESRD).
Yu-Ming Chang   +8 more
doaj   +1 more source

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter   +17 more
wiley   +1 more source

Minnelide ameliorates Col4a5+/− mice by upregulating Col4a5 and alleviating endoplasmic reticulum stress

open access: yesFrontiers in Pharmacology
BackgroundAlport syndrome (AS) is a progressive hereditary nephropathy caused by mutations in collagen IV genes, notably COL4A5, leading to proteinuria and kidney failure. Current therapies using RAAS inhibitors show limited efficacy.
Bao-wei Ji   +18 more
doaj   +1 more source

Flavin-containing monooxygenases: mutations, disease and drug response [PDF]

open access: yes, 2008
NOTICE: this is the author’s version of a work that was accepted for publication in Trends in Pharmacological Sciences. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality ...
Phillips, IR, Shephard, EA
core   +1 more source

Inpatient Food Insecurity and Pediatric Hematology Oncology Hospitalization Outcomes

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Children with cancer and blood disorders are at risk for food insecurity (FI). We aimed to describe the association of inpatient food insecurity (IFI) and hospitalization outcomes among patients admitted to the pediatric hematology oncology service. Of 325 caregivers screened for IFI, 60 (18.6%) screened positive.
Joanna M. Robles   +4 more
wiley   +1 more source

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