Search Results - "Dauwerse, Johannes G."

Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy by Lemmers, Richard J.L.F, van der Vliet, Patrick J, Klooster, Rinse, Sacconi, Sabrina, Camaño, Pilar, Dauwerse, Johannes G, Snider, Lauren, Straasheijm, Kirsten R, Jan van Ommen, Gert, Padberg, George W, Miller, Daniel G, Tapscott, Stephen J, Tawil, Rabi, Frants, Rune R, van der Maarel, Silvère M

“…Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy in adults that is foremost characterized by progressive wasting of muscles…”
Get full text

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome by Dauwerse, Johannes G, Dixon, Jill, Seland, Saskia, Ruivenkamp, Claudia A L, van Haeringen, Arie, Hoefsloot, Lies H, Peters, Dorien J M, Boers, Agnes Clement-de, Daumer-Haas, Cornelia, Maiwald, Robert, Zweier, Christiane, Kerr, Bronwyn, Cobo, Ana M, Toral, Joaquín F, Hoogeboom, A Jeannette M, Lohmann, Dietmar R, Hehr, Ute, Dixon, Michael J, Breuning, Martijn H, Wieczorek, Dagmar

“…We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS)…”
Get full text

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease by Leeuwen, Irma S. Lantinga-van, Dauwerse, Johannes G., Baelde, Hans J., Leonhard, Wouter N., van de Wal, Annemieke, Ward, Christopher J., Verbeek, Sjef, DeRuiter, Marco C., Breuning, Martijn H., de Heer, Emile, Peters, Dorien J.M.

“…Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of renal failure and is characterized by the formation of many fluid-filled cysts in the…”
Get full text

Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance by Rutten, Julie W., Hack, Remco J., Duering, Marco, Gravesteijn, Gido, Dauwerse, Johannes G., Overzier, Maurice, van den Akker, Erik B., Slagboom, Eline, Holstege, Henne, Nho, Kwangsik, Saykin, Andrew, Dichgans, Martin, Malik, Rainer, Lesnik Oberstein, Saskia A.J.

“…To determine the small vessel disease spectrum associated with cysteine-altering variants in community-dwelling individuals by analyzing the clinical and…”
Get full text

Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients by Gravesteijn, Gido, Dauwerse, Johannes G, Overzier, Maurice, Brouwer, Gwendolyn, Hegeman, Ingrid, Mulder, Aat A, Baas, Frank, Kruit, Mark C, Terwindt, Gisela M, van Duinen, Sjoerd G, Jost, Carolina R, Aartsma-Rus, Annemieke, Lesnik Oberstein, Saskia A J, Rutten, Julie W

“…CADASIL is a vascular protein aggregation disorder caused by cysteine-altering NOTCH3 variants, leading to mid-adult-onset stroke and dementia. Here, we report…”
Get full text

Reducing YAP expression in Pkd1 mutant mice does not improve the cystic phenotype by Formica, Chiara, Kunnen, Sandra, Dauwerse, Johannes G., Mullick, Adam E., Dijkstra, Kyra L., Scharpfenecker, Marion, Peters, Dorien J. M.

“…The Hippo pathway is a highly conserved signalling route involved in organ size regulation. The final effectors of this pathway are two transcriptional…”
Get full text

In vitro 3D phenotypic drug screen identifies celastrol as an effective in vivo inhibitor of polycystic kidney disease by Booij, Tijmen H, Leonhard, Wouter N, Bange, Hester, Yan, Kuan, Fokkelman, Michiel, Plugge, Anna J, Veraar, Kimberley A M, Dauwerse, Johannes G, van Westen, Gerard J P, van de Water, Bob, Price, Leo S, Peters, Dorien J M

“…Abstract Polycystic kidney disease (PKD) is a prevalent genetic disorder, characterized by the formation of kidney cysts that progressively lead to kidney…”
Get full text

Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans by Rutten, Julie W., Boon, Elles M.J., Liem, Michael K., Dauwerse, Johannes G., Pont, Margot J., Vollebregt, Ellen, Maat-Kievit, Anneke J., Ginjaar, Hendrika B., Lakeman, Phillis, van Duinen, Sjoerd G., Terwindt, Gisela M., Lesnik Oberstein, Saskia A.J.

“…ABSTRACT Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by stereotyped missense mutations in…”
Get full text

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS by Dauwerse, Johannes G, van Belzen, Martine, van Haeringen, Arie, van Santen, Gijs, van de Lans, Christian, Rahikkala, Elisa, Garavelli, Livia, Breuning, Martijn, Hennekam, Raoul, Peters, Dorien

“…Whole-exome sequencing of a patient with intellectual disability and without recognisable phenotype yielded a mutation in the intron20 splice donor site of…”
Get full text

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes by Gijsbers, Antoinet C.J, Bosch, Cathy A.J, Dauwerse, Johannes G, Giromus, Osdilly, Hansson, Kerstin, Hilhorst-Hofstee, Yvonne, Kriek, Marjolein, van Haeringen, Arie, Bijlsma, Emilia K, Bakker, Egbert, Breuning, Martijn H, Ruivenkamp, Claudia A.L

“…Abstract Apparently balanced chromosome abnormalities are occasionally associated with mental retardation (MR). These balanced rearrangements may disrupt…”
Get full text

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation by Gijsbers, Antoinet C.J, Dauwerse, Johannes G, Bosch, Cathy A.J, Boon, Elles M.J, van den Ende, Wilco, Kant, Sarina G, Hansson, Kerstin M.B, Breuning, Martijn H, Bakker, Egbert, Ruivenkamp, Claudia A.L

“…Abstract Mosaicism involving a normal cell line and an unbalanced autosomal translocation are rare. In this study we present three new cases with such a…”
Get full text

A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features by Dauwerse, Johannes G., Ruivenkamp, Claudia A., Hansson, Kerstin, Marijnissen, Godfried M., Peters, Dorien J.M., Breuning, Martijn H., Hilhorst‐Hofstee, Yvonne

“…We have characterized a de novo complex rearrangement of the long arm of chromosome 7 in a female patient with moderate mental retardation (MR), anxiety…”
Get full text

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome by DAUWERSE, Johannes G, DE VRIES, Bert B. A, WOUTERS, Cokkie H, BAKKER, Egbert, RAPPOLD, Gudrun, MORTIER, Geert R, BREUNING, Martijn H, PETERS, Dorien J. M

“…Here, we report a patient with a novel brachydactyly-syndactyly syndrome and a de novo translocation 46,XY,t(4;6)(q12;p23). We mapped the breakpoint and…”
Get full text

Identification and characterization of the tuberous sclerosis gene on chromosome 16

“…Tuberous sclerosis (TSC) is an autosomal dominant multisystem disorder with loci assigned to chromosomes 9 and 16. Using pulsed-field gel electrophoresis…”
Get more information

Broad phenotype of cysteine altering NOTCH3 variants in UK Biobank: CADASIL to non-penetrance by Rutten, Julie W, Hack, Remco J, Duering, Marco, Gravesteijn, Gido G, Dauwerse, Johannes G, Overzier, Maurice, van den Akker, Erik B, Slagboom, Eline, Holstege, Henne, Nho, Kwangsik, Saykin, Andrew, Dichgans, Martin, Malik, Rainer, Lesnik Oberstein, Saskia A.J

“…OBJECTIVETo determine the small vessel disease spectrum associated with cysteine altering NOTCH3 variants in community dwelling individuals, by analyzing the…”
Get full text

A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features by Dauwerse, Johannes G., Ruivenkamp, Claudia A., Hansson, Kerstin, Marijnissen, Godfried M., Peters, Dorien J.M., Breuning, Martijn H., Hilhorst-Hofstee, Yvonne

Get full text

Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome by Blough, Ruthann I., Petrij, Fred, Dauwerse, Johannes G., Milatovich-Cherry, Athena, Weiss, Lester, Saal, Howard M., Rubinstein, Jack H.

“…Most reported microdeletions of the CREB‐binding protein (CBP) gene in the Rubinstein‐Taybi syndrome (RTS) were detected by fluorescence in situ hybridization…”
Get full text