Results 31 to 40 of about 2,646 (162)

The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome

Clinical Epigenetics, 2017
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.
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   +11 more
doaj   +1 more source

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Scientific Reports, 2021
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported
Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié   +24 more
doaj   +1 more source

Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior. [PDF]

PLoS Genetics, 2015
Individuals with Cornelia de Lange Syndrome (CdLS) display diverse developmental deficits, including slow growth, multiple limb and organ abnormalities, and intellectual disabilities.
Yaning Wu, Maria Gause, Dongbin Xu, Ziva Misulovin, Cheri A Schaaf, Ramya C Mosarla, Elizabeth Mannino, Megan Shannon, Emily Jones, Mi Shi, Wen-Feng Chen, Olivia L Katz, Amita Sehgal, Thomas A Jongens, Ian D Krantz, Dale Dorsett   +15 more
doaj   +1 more source

Regulation of endoderm development by zebrafish Nipbl

Developmental Biology, 2010
Program/Abstract # 270 Regulation of endoderm development by zebrafish Nipbl Akihiko Muto a , Thomas F. Schilling b , Anne L. Calof b , Arthur D. Lander a a Dev & Cell Biol., Univ. of California, Irvine, CA, USA b Anatomy & Neurobiol., Univ. of California, Irvine, CA, USA Heterozygous loss of the Nipped-B-like gene (Nipbl) is the most common cause of ...
Muto, Akihiko, Schilling, Thomas F, Calof, Anne L, Lander, Arthur D   +3 more
openaire   +3 more sources

Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review

Frontiers in Pediatrics, 2022
BackgroundCornelia de Lange syndrome (CdLS) is a genetic disorder caused by variants in cohesion genes including NIPBL, SMC1A, SMC3, RAD21, and HDAC8.
Huakun Shangguan, Ruimin Chen
doaj   +1 more source

Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology

Stem Cell Research & Therapy, 2022
Background Cornelia de Lange syndrome (CdLS) is a rare multisystem genetic disorder which is caused by genetic defects involving the Nipped-B-like protein (NIPBL) gene in the majority of clinical cases (60–70%).
Alessandro Umbach, Giulia Maule, Eyemen Kheir, Alessandro Cutarelli, Marika Foglia, Luca Guarrera, Luca L. Fava, Luciano Conti, Enrico Garattini, Mineko Terao, Anna Cereseto   +10 more
doaj   +1 more source

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome [PDF]

Journal of Medical Genetics, 2004
Cornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome; OMIM 122470) is characterised by pre- and postnatal growth retardation, microcephaly, severe mental retardation with speech delay, feeding problems, major malformations including limb defects, and characteristic facial features.1 Facial dysmorphism includes arched eyebrows ...
G, Borck, R, Redon, D, Sanlaville, M, Rio, M, Prieur, S, Lyonnet, M, Vekemans, N P, Carter, A, Munnich, L, Colleaux, V, Cormier-Daire   +10 more
openaire   +2 more sources

Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome.

PLoS Biology, 2011
Cornelia de Lange Syndrome (CdLS) is the founding member of a class of multi-organ system birth defect syndromes termed cohesinopathies, named for the chromatin-associated protein complex cohesin, which mediates sister chromatid cohesion.
Akihiko Muto, Anne L Calof, Arthur D Lander, Thomas F Schilling   +3 more
doaj   +1 more source

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome

BMC Pediatrics, 2018
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.
Mingyan Hei, Xiangyu Gao, Lingqian Wu
doaj   +1 more source

Prenatal imaging phenotypes and outcomes of umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies: A historical cohort study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This retrospective cohort compared umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies. Type III was the most common subtype in singletons, whereas Type II was the most common in twins. Fetal growth restriction was more frequent in twins, but primary structural anomaly rates were similar.
Yun Zhang, Meng Meng, Fengyu Wu, Jianping Chen, Fenhe Zhou, Yuchun Ge, Ya Xing, Xinyao Zhou, Gang Zou   +8 more
wiley   +1 more source