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https://www.readbyqxmd.com/read/29764576/-nipbl-gene-mutations-in-two-children-with-cornelia-de-lange-syndrome
#1
Yun-Jing Zhao, Hong-Wei Ma
Both children (one boy and one girl) experienced disease onset in infancy and visited the hospital due to growth retardation. They had unusual facies including thick hair, arched and confluent eyebrows, long and curly eyelashes, short nose, and micrognathia. Patient 1 had congenital heart disease (atrial septal defect and pulmonary stenosis) and special dermatoglyph (a single palmar crease). Patient 2 had cleft palate and moderate-to-severe deafness. Clinical features suggested Cornelia de Lange syndrome in both children...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29670369/inhibition-of-nipbl-enhances-the-chemosensitivity-of-non-small-cell-lung-cancer-cells-via-the-dna-damage-response-and-autophagy-pathway
#2
Lei Zheng, Huanhuan Zhou, Liwei Guo, Xiaoling Xu, Shengjie Zhang, Weizhen Xu, Weimin Mao
Background: Previously, we reported that high expression of nipped-B-like protein (NIPBL) was strongly correlated with poor prognosis, tumor differentiation, and lymph node metastasis. Survival analysis indicated that NIPBL expression was a potential prognostic factor for non-small cell lung cancer (NSCLC). Moreover, loss of NIPBL decreased lung cancer cells proliferation, migration, invasion and promoted apoptosis as well as sensitivity to chemotherapeutic agents. However, the deep mechanisms were not explored...
2018: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29611806/mcm2-7-dependent-cohesin-loading-during-s-phase-promotes-sister-chromatid-cohesion
#3
Ge Zheng, Mohammed Kanchwala, Chao Xing, Hongtao Yu
DNA replication transforms cohesin rings dynamically associated with chromatin into the cohesive form to establish sister-chromatid cohesion. Here, we show that, in human cells, cohesin loading onto chromosomes during early S phase requires the replicative helicase MCM2-7 and the kinase DDK. Cohesin and its loader SCC2/4 (NIPBL/MAU2 in humans) associate with DDK and phosphorylated MCM2-7. This binding does not require MCM2-7 activation by CDC45 and GINS, but its persistence on activated MCM2-7 requires fork-stabilizing replisome components...
April 3, 2018: ELife
https://www.readbyqxmd.com/read/29531005/a-novel-frameshift-mutation-c-5387_5388instt-in-nipbl-in-cornelia-de-lange-syndrome-with-severe-phenotype
#4
Min Jae Kang, Soo Min Ahn, Il Tae Hwang
Cornelia de Lange syndrome (CdLS) is a developmental disorder which is characterized by typical facial features, upper extremity malformations, and growth and cognitive delays. The genes involved in CdLS encode the cohesin complex and its associated proteins; and NIPBL mutations, which account for half of the cases, result in severe CdLS phenotypes. We describe a girl with CdLS, presenting with typical facial dysmorphism, cleft palate, hypertrichosis, upper limb hypertonicity, flexion contracture of elbows, micromelia, bilateral hearing loss, gastroesophageal reflux, and severe pyloric stenosis...
January 2018: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29452578/clinical-and-genetic-study-of-20-patients-from-china-with-cornelia-de-lange-syndrome
#5
Mingyan Hei, Xiangyu Gao, Lingqian Wu
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic study of 20 CdLS cases from China. METHODS: This is an observational study. Suspected patients were referred for further confirmation, clinical treatment, and genetic testing under voluntary condition. Demographic data and family history, data of clinical manifestations including facial dysmorphism and developmental delay of each patient were collected...
February 16, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29440723/publisher-correction-brd4-interacts-with-nipbl-and-brd4-is-mutated-in-a-cornelia-de-lange-like-syndrome
#6
Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R Grimes, James Rhodes, Alex von Kriegsheim, Ana Blatnik, Fiona J Stewart, Emma Wakeling, Nicola Carroll, Alison Ross, Soo-Mi Park, Wendy A Bickmore, Madapura M Pradeepa, David R FitzPatrick
In the version of this article initially published, Wendy Bickmore and Madapura Pradeepa were incorrectly not indicated as corresponding authors. The error has been corrected in the HTML and PDF versions of the paper.
May 2018: Nature Genetics
https://www.readbyqxmd.com/read/29379197/brd4-interacts-with-nipbl-and-brd4-is-mutated-in-a-cornelia-de-lange-like-syndrome
#7
Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R Grimes, James Rhodes, Alex von Kriegsheim, Ana Blatnik, Fiona J Stewart, Emma Wakeling, Nicola Carroll, Alison Ross, Soo-Mi Park, Wendy A Bickmore, Madapura M Pradeepa, David R FitzPatrick
We found that the clinical phenotype associated with BRD4 haploinsufficiency overlapped with that of Cornelia de Lange syndrome (CdLS), which is most often caused by mutation of NIPBL. More typical CdLS was observed with a de novo BRD4 missense variant, which retained the ability to coimmunoprecipitate with NIPBL, but bound poorly to acetylated histones. BRD4 and NIPBL displayed correlated binding at super-enhancers and appeared to co-regulate developmental gene expression.
March 2018: Nature Genetics
https://www.readbyqxmd.com/read/29348408/nipbl-haploinsufficiency-reveals-a-constellation-of-transcriptome-disruptions-in-the-pluripotent-and-cardiac-states
#8
Jason A Mills, Pamela S Herrera, Maninder Kaur, Lanfranco Leo, Deborah McEldrew, Jesus A Tintos-Hernandez, Ramakrishnan Rajagopalan, Alyssa Gagne, Zhe Zhang, Xilma R Ortiz-Gonzalez, Ian D Krantz
Cornelia de Lange syndrome (CdLS) is a complex disorder with multiple structural and developmental defects caused by mutations in structural and regulatory proteins involved in the cohesin complex. NIPBL, a cohesin regulatory protein, has been identified as a critical protein responsible for the orchestration of transcriptomic regulatory networks necessary for embryonic development. Mutations in NIPBL are responsible for the majority of cases of CdLS. Through RNA-sequencing of human induced pluripotent stem cells and in vitro-derived cardiomyocytes, we identified hundreds of mRNAs, pseudogenes, and non-coding RNAs with altered expression in NIPBL+/- patient-derived cells...
January 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29279609/molecular-characterization-of-hdac8-deletions-in-individuals-with-atypical-cornelia-de-lange-syndrome
#9
Maria Helgeson, Jennifer Keller-Ramey, Amy Knight Johnson, Jennifer A Lee, Daniel B Magner, Brett Deml, Jacea Deml, Ying-Ying Hu, Zejuan Li, Kirsten Donato, Soma Das, Rachel Laframboise, Sandra Tremblay, Ian Krantz, Sarah Noon, George Hoganson, Jennifer Burton, Christian P Schaaf, Daniela Del Gaudio
Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex, account for ~70% of cases. Herein we report on four female Subjects who were found to carry novel intragenic deletions in HDAC8. In one case, the deletion was found in mosaic state and it was determined to be present in ~38% of blood lymphocytes and in nearly all cells of a buccal sample. All deletions, for which parental blood samples were available, were shown to have arisen de novo...
March 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29261648/regulation-of-the-cohesin-loading-factor-nipbl-role-of-the-lncrna-nipbl-as1-and-identification-of-a-distal-enhancer-element
#10
Jessica Zuin, Valentina Casa, Jelena Pozojevic, Petros Kolovos, Mirjam C G N van den Hout, Wilfred F J van Ijcken, Ilaria Parenti, Diana Braunholz, Yorann Baron, Erwan Watrin, Frank J Kaiser, Kerstin S Wendt
Cohesin is crucial for genome stability, cell division, transcription and chromatin organization. Its functions critically depend on NIPBL, the cohesin-loader protein that is found to be mutated in >60% of the cases of Cornelia de Lange syndrome (CdLS). Other mutations are described in the cohesin subunits SMC1A, RAD21, SMC3 and the HDAC8 protein. In 25-30% of CdLS cases no mutation in the known CdLS genes is detected. Until now, functional elements in the noncoding genome were not characterized in the molecular etiology of CdLS and therefore are excluded from mutation screening, although the impact of such mutations has now been recognized for a wide range of diseases...
December 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29155047/novel-mosaic-variants-in-two-patients-with-cornelia-de-lange-syndrome
#11
Jelena Pozojevic, Ilaria Parenti, Luitgard Graul-Neumann, Sara Ruiz Gil, Erwan Watrin, Kerstin S Wendt, Ralf Werner, Tim M Strom, Gabriele Gillessen-Kaesbach, Frank J Kaiser
Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex. NIPBL represents the major gene of the syndrome and heterozygous mutations can be identified in more than 65% of patients. Interestingly, large portions of these variants were described as somatic mosaicism and often escape standard molecular diagnostics using lymphocyte DNA. Here we discuss the role of somatic mosaicism in CdLS and describe two additional patients with NIPBL mosaicism detected by targeted gene panel or exome sequencing...
November 15, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29141250/a-small-supernumerary-marker-derived-from-the-pericentromeric-region-of-chromosome-5-case-report-and-delineation-of-partial-trisomy-5p-phenotype
#12
Letizia Camerota, Mariabernarda Pitzianti, Diana Postorivo, Anna M Nardone, Claudio Ligas, Costanzo Moretti, Augusto Pasini, Francesco Brancati
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29094699/two-independent-modes-of-chromatin-organization-revealed-by-cohesin-removal
#13
Wibke Schwarzer, Nezar Abdennur, Anton Goloborodko, Aleksandra Pekowska, Geoffrey Fudenberg, Yann Loe-Mie, Nuno A Fonseca, Wolfgang Huber, Christian H Haering, Leonid Mirny, Francois Spitz
Imaging and chromosome conformation capture studies have revealed several layers of chromosome organization, including segregation into megabase-sized active and inactive compartments, and partitioning into sub-megabase domains (TADs). It remains unclear, however, how these layers of organization form, interact with one another and influence genome function. Here we show that deletion of the cohesin-loading factor Nipbl in mouse liver leads to a marked reorganization of chromosomal folding. TADs and associated Hi-C peaks vanish globally, even in the absence of transcriptional changes...
November 2, 2017: Nature
https://www.readbyqxmd.com/read/28987049/downregulation-of-cohesin-loading-factor-nipped-b-like-protein-nipbl-induces-cell-cycle-arrest-apoptosis-and-autophagy-of-breast-cancer-cell-lines
#14
Huanhuan Zhou, Lei Zheng, Kongbeng Lu, Yun Gao, Liwei Guo, Weizhen Xu, Xiaojia Wang
BACKGROUND The cohesin loading factor, nipped-B-like protein (NIPBL), is also known as the sister chromatid cohesion 2 (SCC2) human homolog. Recently, we have studied the role of expression levels of NIPBL in cell proliferation and chemotherapy resistance of non-small cell lung cancer (NSCLC) cells in vitro. The aim of this study was to investigate the effects of expression of the cohesin loading factor, NIPBL, on the cell cycle, apoptosis, and autophagy of breast cancer cell lines in vitro. MATERIAL AND METHODS Expression levels of the NIPBL in the breast cancer cell lines, MCF7, Bcap37, MDA-MB 453 and MDA-MB 231, were measured using Western blot and flow cytometry...
October 7, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28914604/scc2-nipbl-hops-between-chromosomal-cohesin-rings-after-loading
#15
James Rhodes, Davide Mazza, Kim Nasmyth, Stephan Uphoff
The cohesin complex mediates DNA-DNA interactions both between (sister chromatid cohesion) and within chromosomes (DNA looping). It has been suggested that intra-chromosome loops are generated by extrusion of DNAs through the lumen of cohesin's ring. Scc2 (Nipbl) stimulates cohesin's ABC-like ATPase and is essential for loading cohesin onto chromosomes. However, it is possible that the stimulation of cohesin's ATPase by Scc2 also has a post-loading function, for example driving loop extrusion. Using fluorescence recovery after photobleaching (FRAP) and single-molecule tracking in human cells, we show that Scc2 binds dynamically to chromatin, principally through an association with cohesin...
September 15, 2017: ELife
https://www.readbyqxmd.com/read/28886330/cornelia-de-lange-syndrome-with-thyroid-agenesis-of-an-indonesian-patient
#16
A M Maskoen, B Laksono, R Hajjah, A Zada, L P Suciati, P N Fauziah, H M Nataprawira
Cornelia de Lange syndrome (CdLs), which is also called Brachmann de Lange syndrome, is a congenital disorder characterized by distinctive facial features, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations that mainly involve the upper extremities. The prevalence ranges from 1:100,000 to as high as 1:10,000. Most cases (50-60%) were carried mutation in NIPBL gene. To our knowledge this is the first CdLs Indonesian case that reported with molecular analysis study...
August 30, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28855971/the-effect-of-nipped-b-like-nipbl-haploinsufficiency-on-genome-wide-cohesin-binding-and-target-gene-expression-modeling-cornelia-de-lange-syndrome
#17
Daniel A Newkirk, Yen-Yun Chen, Richard Chien, Weihua Zeng, Jacob Biesinger, Ebony Flowers, Shimako Kawauchi, Rosaysela Santos, Anne L Calof, Arthur D Lander, Xiaohui Xie, Kyoko Yokomori
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder frequently associated with heterozygous loss-of-function mutations of Nipped-B-like ( NIPBL ), the human homolog of Drosophila Nipped-B . NIPBL loads cohesin onto chromatin. Cohesin mediates sister chromatid cohesion important for mitosis but is also increasingly recognized as a regulator of gene expression. In CdLS patient cells and animal models, expression changes of multiple genes with little or no sister chromatid cohesion defect suggests that disruption of gene regulation underlies this disorder...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28781842/rare-form-of-autosomal-dominant-familial-cornelia-de-lange-syndrome-due-to-a-novel-duplication-in-smc3
#18
Elena Infante, Gorka Alkorta-Aranburu, Areeg El-Gharbawy
Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorphic features.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28752682/impairment-of-retinoic-acid-signaling-in-cornelia-de-lange-syndrome-fibroblasts
#19
Grazia Fazio, Laura Rachele Bettini, Silvia Rigamonti, Dorela Meta, Andrea Biondi, Giovanni Cazzaniga, Angelo Selicorni, Valentina Massa
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting the neurodevelopment, gastrointestinal, musculoskeletal systems. CdLS is caused by mutations within NIPBL, SMC1A, SMC3, RAD21, and HDAC8 genes. These genes codify for the "cohesin complex" playing a role in chromatid adhesion, DNA repair and gene expression regulation. The aim of this study was to investigate retinoic acid (RA) signaling pathway, a master developmental regulator, in CdLS cells. METHODS: Skin biopsies from CdLS patients and healthy controls were cultured and derived primary fibroblast cells were treated with RA or dimethyl sulfoxide (vehicle)...
October 2, 2017: Birth Defects Research
https://www.readbyqxmd.com/read/28679547/connected-gene-communities-underlie-transcriptional-changes-in-cornelia-de-lange-syndrome
#20
Imène Boudaoud, Éric Fournier, Audrey Baguette, Maxime Vallée, Fabien C Lamaze, Arnaud Droit, Steve Bilodeau
Cornelia de Lange syndrome (CdLS) is a complex multisystem developmental disorder caused by mutations in cohesin subunits and regulators. While its precise molecular mechanisms are not well defined, they point toward a global deregulation of the transcriptional gene expression program. Cohesin is associated with the boundaries of chromosome domains and with enhancer and promoter regions connecting the three-dimensional genome organization with transcriptional regulation. Here, we show that connected gene communities, structures emerging from the interactions of noncoding regulatory elements and genes in the three-dimensional chromosomal space, provide a molecular explanation for the pathoetiology of CdLS associated with mutations in the cohesin-loading factor NIPBL and the cohesin subunit SMC1A NIPBL and cohesin are important constituents of connected gene communities that are centrally positioned at noncoding regulatory elements...
September 2017: Genetics
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