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1.
Insulin secretion deficits in a Prader-Willi syndrome ß-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones.
PLoS Genet
; 19(4): e1010710, 2023 04.
Article
in English
| MEDLINE | ID: mdl-37068109
2.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Article
in English
| MEDLINE | ID: mdl-31031012
3.
Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach.
Am J Med Genet A
; 185(7): 2046-2055, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33949097
4.
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
Hum Mol Genet
; 24(11): 3238-47, 2015 Jun 01.
Article
in English
| MEDLINE | ID: mdl-25721401
5.
Recommendations for the investigation of animal models of Prader-Willi syndrome.
Mamm Genome
; 24(5-6): 165-78, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23609791
6.
Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences.
Nature
; 447(7141): 167-77, 2007 May 10.
Article
in English
| MEDLINE | ID: mdl-17495919
7.
The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing.
Hum Mol Genet
; 19(7): 1153-64, 2010 Apr 01.
Article
in English
| MEDLINE | ID: mdl-20053671
8.
Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome.
Am J Physiol Endocrinol Metab
; 300(5): E909-22, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21343540
9.
Development of type 2 diabetes following intrauterine growth retardation in rats is associated with progressive epigenetic silencing of Pdx1.
J Clin Invest
; 118(6): 2316-24, 2008 Jun.
Article
in English
| MEDLINE | ID: mdl-18464933
10.
A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.
Sci Rep
; 10(1): 13026, 2020 08 03.
Article
in English
| MEDLINE | ID: mdl-32747801
11.
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing.
JCI Insight
; 5(20)2020 10 15.
Article
in English
| MEDLINE | ID: mdl-33055427
12.
Recent assembly of an imprinted domain from non-imprinted components.
PLoS Genet
; 2(10): e182, 2006 Oct.
Article
in English
| MEDLINE | ID: mdl-17069464
13.
The gene encoding the fragile X RNA-binding protein is controlled by nuclear respiratory factor 2 and the CREB family of transcription factors.
Nucleic Acids Res
; 34(4): 1205-15, 2006.
Article
in English
| MEDLINE | ID: mdl-16500891
14.
Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus.
Nucleic Acids Res
; 33(15): 4740-53, 2005.
Article
in English
| MEDLINE | ID: mdl-16116039
15.
Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes.
BMC Genomics
; 6: 157, 2005 Nov 09.
Article
in English
| MEDLINE | ID: mdl-16280085
16.
Anorexigenic melanocortin signaling in the hypothalamus is augmented in association with failure-to-thrive in a transgenic mouse model for Prader-Willi syndrome.
Brain Res
; 957(1): 42-5, 2002 Dec 06.
Article
in English
| MEDLINE | ID: mdl-12443978
17.
Physical mapping of the pink-eyed dilution complex in mouse chromosome 7 shows that Atp10c is the only transcript between Gabrb3 and Ube3a.
DNA Seq
; 15(4): 306-9, 2004 Aug.
Article
in English
| MEDLINE | ID: mdl-15620220
18.
In vivo evolution of tumor-derived endothelial cells.
PLoS One
; 7(5): e37138, 2012.
Article
in English
| MEDLINE | ID: mdl-22623986
19.
Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.
PLoS One
; 7(5): e36505, 2012.
Article
in English
| MEDLINE | ID: mdl-22574173
20.
The putatively functional Mkrn1-p1 pseudogene is neither expressed nor imprinted, nor does it regulate its source gene in trans.
Proc Natl Acad Sci U S A
; 103(32): 12039-44, 2006 Aug 08.
Article
in English
| MEDLINE | ID: mdl-16882727