[HTML][HTML] Mouse models of cystic fibrosis: phenotypic analysis and research applications
M Wilke, RM Buijs-Offerman, J Aarbiou… - Journal of Cystic …, 2011 - Elsevier
Genetically modified mice have been studied for more than fifteen years as models of cystic
fibrosis (CF). The large amount of experimental data generated illuminates the complex multi…
fibrosis (CF). The large amount of experimental data generated illuminates the complex multi…
[HTML][HTML] Rescue of functional delF508-CFTR channels in cystic fibrosis epithelial cells by the α-glucosidase inhibitor miglustat
C Norez, S Noel, M Wilke, M Bijvelds, H Jorna, P Melin… - FEBS letters, 2006 - Elsevier
In the disease cystic fibrosis (CF), the most common mutation delF508 results in
endoplasmic reticulum retention of misfolded CF gene proteins (CFTR). We show that the α-1,2-…
endoplasmic reticulum retention of misfolded CF gene proteins (CFTR). We show that the α-1,2-…
[PDF][PDF] Sodium channel SCN3A (NaV1. 3) regulation of human cerebral cortical folding and oral motor development
Channelopathies are disorders caused by abnormal ion channel function in differentiated
excitable tissues. We discovered a unique neurodevelopmental channelopathy resulting from …
excitable tissues. We discovered a unique neurodevelopmental channelopathy resulting from …
[HTML][HTML] Animal models of cystic fibrosis
BJ Scholte, DJ Davidson, M Wilke… - Journal of Cystic Fibrosis, 2004 - Elsevier
Animal models of cystic fibrosis, in particular several different mutant mouse strains obtained
by homologous recombination, have contributed considerably to our understanding of CF …
by homologous recombination, have contributed considerably to our understanding of CF …
[HTML][HTML] International consensus recommendations on the diagnostic work-up for malformations of cortical development
R Oegema, TS Barakat, M Wilke, K Stouffs… - Nature Reviews …, 2020 - nature.com
Malformations of cortical development (MCDs) are neurodevelopmental disorders that
result from abnormal development of the cerebral cortex in utero. MCDs place a substantial …
result from abnormal development of the cerebral cortex in utero. MCDs place a substantial …
SYT1-associated neurodevelopmental disorder: a case series
Synaptotagmin 1 (SYT1) is a critical mediator of fast, synchronous, calcium-dependent
neurotransmitter release and also modulates synaptic vesicle endocytosis. This paper describes …
neurotransmitter release and also modulates synaptic vesicle endocytosis. This paper describes …
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
…, M Nizon, B Cogne, Y van Ierland, M Wilke… - Science …, 2023 - science.org
Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global
developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given …
developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given …
[PDF][PDF] Web-accessible application for identifying pathogenic transcripts with RNA-Seq: increased sensitivity in diagnosis of neurodevelopmental disorders
…, DJ Smits, HH Huidekoper, M Williams, M Wilke… - The American Journal of …, 2023 - cell.com
For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management,
predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a genetic …
predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a genetic …
[PDF][PDF] MACF1 mutations encoding highly conserved zinc-binding residues of the GAR domain cause defects in neuronal migration and axon guidance
…, L Vandervore, MA van Slegtenhorst, M Wilke… - The American Journal of …, 2018 - cell.com
To date, mutations in 15 actin- or microtubule-associated genes have been associated with
the cortical malformation lissencephaly and variable brainstem hypoplasia. During a …
the cortical malformation lissencephaly and variable brainstem hypoplasia. During a …
The cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in maturation stage ameloblasts, odontoblasts and bone cells
A Bronckers, L Kalogeraki, HJN Jorna, M Wilke… - Bone, 2010 - Elsevier
Patients with cystic fibrosis (CF) have mild defects in dental enamel. The gene mutated in
these patients is CFTR, a Cl − channel involved in transepithelial salt and water transport and …
these patients is CFTR, a Cl − channel involved in transepithelial salt and water transport and …