Nature Search

Adult human kidney organoids originate from CD24⁺ cells and represent an advanced model for adult polycystic kidney disease

Adult kidney organoids, or tubuloids, originate from CD24⁺ epithelial cells. Tubuloids represent a functional kidney tubule and can be used to model autosomal dominant polycystic kidney disease and study drug response.

Yaoxian Xu
Christoph Kuppe
Rafael Kramann
Research27 Oct 2022
Nature Genetics

Volume: 54, P: 1690-1701
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

Peter A.J. Leegwater
Gerre Vermeulen
Marjo S. van der Knaap
Research12 Nov 2001
Nature Genetics

Volume: 29, P: 383-388
Biochemical Studies in the Liver and Muscle of Patients with Zellweger Syndrome

J M F Trijbels
J A Berden
M Van Den Broek-Van Essen
Research01 Jun 1983
Pediatric Research

Volume: 17, P: 514-517
Release of Ca²⁺ from a nonmitochondrial intracellular store in pancreatic acinar cells by inositol-1,4,5-trisphosphate

H. Streb
R. F. Irvine
I. Schulz
Research03 Nov 1983
Nature

Volume: 306, P: 67-69
Stable-Isotope Dilution Analysis of D- and L-2-Hydroxyglutaric Acid: Application to the Detection and Prenatal Diagnosis of D- and L-2-Hydroxyglutaric Acidemias

K M Gibson
H J Ten Brink
C Jakobs
Research01 Sept 1993
Pediatric Research

Volume: 34, P: 277-280
134 PROGRESSIVE ATAXIA AND MENTAL RETARDATION ASSOCIATED WITH LEUCODYSTROPHY IN 4 PATIENTS WITH L-2-HYDROXY-GLUTARIC ACIDURIA

G F Hoffmann
P Barth
F Ranefeld
Research01 Dec 1991
Pediatric Research

Volume: 30, P: 650
An organoid biobank for childhood kidney cancers that captures disease and tissue heterogeneity

Pre-clinical cell culture models capturing the heterogeneity of childhood kidney tumours are limited. Here, the authors establish and characterise an organoid biobank of tumour and matched normal organoid cultures from over 50 children with different subtypes of kidney cancer.

Camilla Calandrini
Frans Schutgens
Jarno Drost
ResearchOpen Access11 Mar 2020
Nature Communications

Volume: 11, P: 1-14
A bispecific antibody approach for the potential prophylactic treatment of inherited bleeding disorders

Gandhi, Zivkovic, Østergaard and colleagues describe a bispecific antibody, HMB-001, which could be used for the prophylactic treatment of patients with genetic bleeding disorders, currently treated acutely with recombinant coagulation factor VIIa. HMB-001 can bind and accumulate endogenous FVIIa and localize it to sites of vascular injury by targeting it to the TREM-like transcript-1 receptor selectively expressed on activated platelets.

Prafull S. Gandhi
Minka Zivkovic
Johan H. Faber
ResearchOpen Access08 Feb 2024
Nature Cardiovascular Research

Volume: 3, P: 166-185
Increasing aerosol emissions from boreal biomass burning exacerbate Arctic warming

Boreal fires are expected to increase with warming, but how the aerosols emitted in these fires affect the climate is not well understood. Here the authors show that this increase in boreal fire aerosols results in a positive radiative forcing, leading to additional Arctic warming.

Qirui Zhong
Nick Schutgens
Guido R. van der Werf
Research14 Nov 2024
Nature Climate Change

Volume: 14, P: 1275-1281
76 IMPAIRED CHOLESTEROL SIDE CHAIN CLEAVAGE IN PATIENTS WITHOUT PEROXISOMES (ZELLWEGER SYNDROME)

H S A Heymans
R J A Wanders
R B H Schutgens
Research01 Oct 1986
Pediatric Research

Volume: 20, P: 1046
Using modelled relationships and satellite observations to attribute modelled aerosol biases over biomass burning regions

Error attribution based on modelled relationships and satellite observations suggests that errors in global models are more important and require more concerns than emission errors in creating the overall uncertainties for biomass burning aerosols.

Qirui Zhong
Nick Schutgens
Mian Chin
ResearchOpen Access07 Oct 2022
Nature Communications

Volume: 13, P: 1-10
74 A SIMPLE METHOD FOR THE DETERMINATION OF BILE ACID POOL COMPOSITION IN MAN

C M A Bijleveld
R J Vonk
F Kuipers
Research01 Oct 1986
Pediatric Research

Volume: 20, P: 1046
73 BILIARY BILE ACID COMPOSITION IN THE HUMAN FETUS

C Colombo
K D R Setchell
F Sereni
Research01 Oct 1986
Pediatric Research

Volume: 20, P: 1046
77 SPECIES DEPENDENCE OF THE HYPERCHOLESTEROLEMIC EFFECT OF DIETARY CASEIN

R Van Der Meer
Pont Maclaine
H T De Vries
Research01 Oct 1986
Pediatric Research

Volume: 20, P: 1046
78 GESTATIONAL DIABETES AND CURACAOAN BEANS

P J Offringa
N Back
E R Boersma
Research01 Oct 1986
Pediatric Research

Volume: 20, P: 1046
Bone Marrow Transplantation Has a Significant Effect on Enzyme Levels and Storage of Glycosaminoglycans in Tissues and in Isolated Hepatocytes of Mucopolysaccharidosis Type VII Mice

B J H M Poorthuis
A E Romme
G Wagemaker
Research01 Aug 1994
Pediatric Research

Volume: 36, P: 187-193
Assessing differential application of thromboprophylaxis regimes related to risk of pulmonary embolism and mortality in COVID-19 patients through instrumental variable analysis

Linda Nab
Chantal Visser
P. M. van der Zee
ResearchOpen Access25 Mar 2025
Scientific Reports

Volume: 15, P: 1-15
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C

Avraham Zeharia
Merel S. Ebberink
Stanley H. Korman
Research30 May 2007
Journal of Human Genetics

Volume: 52, P: 599-606
2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism

K Michael Gibson
Terry G Burlingame
Jerry Vockley
Research01 Jun 2000
Pediatric Research

Volume: 47, P: 830-833
2-Methylbutyryl-CoA dehydrogenase (2-MBCDase) deficiency: a new inborn error of L-isoleucine metabolism

K M Gibson
T Burlingame
J Vockley
Research Highlights01 Jan 2000
Genetics in Medicine

Volume: 2, P: 71-72

Search

Adult human kidney organoids originate from CD24⁺ cells and represent an advanced model for adult polycystic kidney disease

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

Biochemical Studies in the Liver and Muscle of Patients with Zellweger Syndrome

Release of Ca²⁺ from a nonmitochondrial intracellular store in pancreatic acinar cells by inositol-1,4,5-trisphosphate

Stable-Isotope Dilution Analysis of D- and L-2-Hydroxyglutaric Acid: Application to the Detection and Prenatal Diagnosis of D- and L-2-Hydroxyglutaric Acidemias

134 PROGRESSIVE ATAXIA AND MENTAL RETARDATION ASSOCIATED WITH LEUCODYSTROPHY IN 4 PATIENTS WITH L-2-HYDROXY-GLUTARIC ACIDURIA

An organoid biobank for childhood kidney cancers that captures disease and tissue heterogeneity

A bispecific antibody approach for the potential prophylactic treatment of inherited bleeding disorders

Increasing aerosol emissions from boreal biomass burning exacerbate Arctic warming

76 IMPAIRED CHOLESTEROL SIDE CHAIN CLEAVAGE IN PATIENTS WITHOUT PEROXISOMES (ZELLWEGER SYNDROME)

Using modelled relationships and satellite observations to attribute modelled aerosol biases over biomass burning regions

74 A SIMPLE METHOD FOR THE DETERMINATION OF BILE ACID POOL COMPOSITION IN MAN

73 BILIARY BILE ACID COMPOSITION IN THE HUMAN FETUS

77 SPECIES DEPENDENCE OF THE HYPERCHOLESTEROLEMIC EFFECT OF DIETARY CASEIN

78 GESTATIONAL DIABETES AND CURACAOAN BEANS

Bone Marrow Transplantation Has a Significant Effect on Enzyme Levels and Storage of Glycosaminoglycans in Tissues and in Isolated Hepatocytes of Mucopolysaccharidosis Type VII Mice

Assessing differential application of thromboprophylaxis regimes related to risk of pulmonary embolism and mortality in COVID-19 patients through instrumental variable analysis

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C

2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism

2-Methylbutyryl-CoA dehydrogenase (2-MBCDase) deficiency: a new inborn error of L-isoleucine metabolism

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