Cornelia de Lange Syndrome

Liu, Jinglan; Baynam, Gareth

doi:10.1007/978-1-4419-6448-9_11

Cited by 28 publications

(25 citation statements)

References 121 publications

(128 reference statements)

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“…Interestingly, four transcripts (DCX [58], ATRX [59], MECP2 [60] and NIPBL [61]) regulated under siRNA against (P)RR have also been associated with mental retardation and/or epilepsy (Table S12 in File S1). Moreover, the genes RELN [58] and SIM1 [62], regulated by PLZF overexpression, are involved in epilepsy and mental retardation, respectively (Table S12 in File S1).…”

Section: Discussionmentioning

confidence: 99%

Distinct Signal Transduction Pathways Downstream of the (P)RR Revealed by Microarray and ChIP-chip Analyses

et al. 2013

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The (pro)renin receptor ((P)RR) signaling is involved in different pathophysiologies ranging from cardiorenal end-organ damage via diabetic retinopathy to tumorigenesis. We have previously shown that the transcription factor promyelocytic leukemia zinc finger (PLZF) is an adaptor protein of the (P)RR. Furthermore, recent publications suggest that major functions of the (P)RR are mediated ligand-independently by its transmembrane and intracellular part, which acts as an accessory protein of V-ATPases. The transcriptome and recruitmentome downstream of the V-ATPase function and PLZF in the context of the (P)RR are currently unknown. Therefore, we performed a set of microarray and chromatin-immunoprecipitation (ChIP)-chip experiments using siRNA against the (P)RR, stable overexpression of PLZF, the PLZF translocation inhibitor genistein and the specific V-ATPase inhibitor bafilomycin to dissect transcriptional pathways downstream of the (P)RR. We were able to identify distinct and overlapping genetic signatures as well as novel real-time PCR-validated target genes of the different molecular functions of the (P)RR. Moreover, bioinformatic analyses of our data confirm the role of (P)RŔs signal transduction pathways in cardiovascular disease and tumorigenesis.

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Section: Discussionmentioning

confidence: 99%

Distinct Signal Transduction Pathways Downstream of the (P)RR Revealed by Microarray and ChIP-chip Analyses

et al. 2013

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“…Pie et al (2010) found that CdLS patients with mutations in SMC1A had a higher incidence of high palate anomalies, but no mutation in SMC1A was identified in our patient 4 with cleft palate. It is possible that mutations affecting the remaining structural components of the cohesin complex (Rad21 or Stag2) or mutations in regulatory sequences for NIPBL might occur in some of the patients without detected mutations in target sequences of NIPBL, SMC1A, or SMC3 (Liu and Baynam, 2010).…”

Section: Discussionmentioning

confidence: 99%

Mutation Analysis in Chinese Patients with Cornelia de Lange Syndrome

Zhong

Liu

Xue

et al. 2012

Genetic Testing and Molecular Biomarkers

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Aims: Cornelia de Lange syndrome (CdLS) is a dominant multisystem developmental disorder and related to mutations of the NIPBL, SMC1A, and SMC3 genes. So far, there has been no report of a mutation analysis in Chinese patients with CdLS, while 12 cases have been clinically described. In the present study, we tried to search for pathogenic mutations of the NIPBL, SMC1A, and SMC3 genes in four patients with CdLS from four unrelated Chinese families. Results: The mutational analysis of the NIPBL, SMC1A, and SMC3 genes by direct sequencing revealed a heterozygous splice-site mutation c.4321G > T(p.V1441L) at exon 20 of NIPBL in proband 2 and a novel heterozygous splice-site mutation c.6589 + 5G > C at intron 38 of NIPBL in proband 3, which was showed by reverse transcription polymerase chain reaction to generate both the full-length and an alternatively spliced transcript with an exon 38 deletion. Conclusions: This is the first report of the mutation analysis of NIPBL in China and our findings both expand the mutation spectrum of NIPBL and provide data for further understanding of the diverse and variable effects of NIPBL mutations.

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“…Beim Cornelia-de-Lange-Syndrom handelt es sich um eine Erkrankung, die multiple Organsysteme betreffen kann. So liegen neben den Dysmorphien des Gesichtes mit Hirsutismus und Lippenanomalien auch häufig eine mentale und eine körperliche Retardierung vor [3]. Weiter bestehen gastroösophageale Dysfunktionen sowie kardiale und urogenitale Fehlbildungen [4].…”

Section: Klinische Befundeunclassified

Ophthalmologische Manifestationen des Cornelia-de-Lange-Syndroms

2015

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A 2-year-old boy suffering from Cornelia de Lange syndrome, presented with mucopurulent ocular discharge and epiphora since birth. Irrigation and probing of the nasolacrimal system revealed and successfully treated bilateral nasolacrimal duct obstructions. Cornelia de Lange syndrome is characterized not only by typical facial features, visceral and urogenital anomalies but also by ophthalmological manifestations in 99% of cases. The most common ophthalmological disorders are synophrys, blepharitis, epiphora, hypertrichosis of the eyebrows and eyelashes, myopia, ptosis and nasolacrimal duct obstruction.

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Cornelia de Lange Syndrome

Cited by 28 publications

References 121 publications

Distinct Signal Transduction Pathways Downstream of the (P)RR Revealed by Microarray and ChIP-chip Analyses

Distinct Signal Transduction Pathways Downstream of the (P)RR Revealed by Microarray and ChIP-chip Analyses

Mutation Analysis in Chinese Patients with Cornelia de Lange Syndrome

Ophthalmologische Manifestationen des Cornelia-de-Lange-Syndroms

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