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JOURNAL ARTICLE
Badal Parikh, Swayam Sahu, Amit Dua, V K Shankhyan
No abstract text is available yet for this article.
2023: Journal of Anaesthesiology, Clinical Pharmacology
#22
JOURNAL ARTICLE
Lorena Maili, Oscar E Ruiz, Philip Kahan, Frankie Chiu, Stephen T Larson, S Shahrukh Hashmi, Jacqueline T Hecht, George T Eisenhoffer
Facial development requires a complex and coordinated series of cellular events, that when perturbed, can lead to structural birth defects. A quantitative approach to quickly assess morphological changes could address how genetic or environmental inputs lead to differences in facial shape and promote malformations. Here we report on a method to rapidly analyze craniofacial development in zebrafish embryos using Facial Analytics based on a Coordinate Extrapolation system, termed zFACE. Confocal images capture facial structures and morphometric data is quantified based on anatomical landmarks present during development...
April 27, 2023: Disease Models & Mechanisms
#23
Liru Cui, Xiaoli Jin
Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormalities, that manifests with abnormal features, causes repeated infections and is associated with developmental delays. Here, we report a newborn male with CSS from Baoding in the Hebei Province of China.
April 2023: JPMA. the Journal of the Pakistan Medical Association
#24
JOURNAL ARTICLE
Rebecca A MacPherson, Vijay Shankar, Robert R H Anholt, Trudy F C Mackay
Switch/Sucrose Non-Fermentable (SWI/SNF)-related intellectual disability disorders (SSRIDDs) and Cornelia de Lange syndrome are rare syndromic neurodevelopmental disorders with overlapping clinical phenotypes. SSRIDDs are associated with the BAF (Brahma-Related Gene-1 Associated Factor) complex, whereas CdLS is a disorder of chromatin modification associated with the cohesin complex. Here, we used RNA interference in Drosophila melanogaster to reduce expression of six genes (brm, osa, Snr1, SMC1, SMC3, vtd) orthologous to human genes associated with SSRIDDs and CdLS...
April 10, 2023: Genetics
#25
JOURNAL ARTICLE
Martin Grosse, Alma Kuechler, Tabib Dabir, Stephanie Spranger, Stefanie Beck-Wödl, Miriam Bertrand, Tobias B Haack, Corinna Grasemann, Eva Manka, Christel Depienne, Frank J Kaiser
SOX4 is a transcription factor with pleiotropic functions required for different developmental processes, such as corticogenesis. As with all SOX proteins, it contains a conserved high mobility group (HMG) and exerts its function via interaction with other transcription factors, such as POU3F2. Recently, pathogenic SOX4 variants have been identified in several patients who had clinical features overlapping with Coffin-Siris syndrome. In this study, we identified three novel variants in unrelated patients with intellectual disability, two of which were de novo (c...
February 9, 2023: International Journal of Molecular Sciences
#26
JOURNAL ARTICLE
Dan Xia, Shuyun Deng, Chenchen Gao, Xiaojuan Li, Lina Zhang, Xiaoqin Xiao, Xiaofang Peng, Jieming Zhang, Zhanwen He, Zhe Meng, Zulin Liu, Nengtai Ouyang, Liyang Liang
Coffin-Siris syndrome (CSS) 6 is caused by heterozygous pathogenic variants in the AT-rich interaction domain 2 (ARID2) gene on 12q12. Currently, only 26 cases with both detailed clinical and genetic information have been documented in the literature. Microdeletions of the entire ARID2 gene are rare. In this study, we report a 5-year-7-month-old Chinese female who underwent whole-exome sequencing to discover that she had a de novo 1.563 Mb heterozygous copy number loss at 12q12q13.11, involving an entire deletion of ARID2...
February 9, 2023: American Journal of Medical Genetics. Part A
#27
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C Kurtz-Nelson, Kaitlyn P Ahlers, Peer Arts, Christopher P Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C Dempsey, Karin E M Diderich, Dan Doherty, Stense Farholt, Erica H Gerkes, Svetlana Gorokhova, Lutgarde C P Govaerts, Pernille A Gregersen, Scott E Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O'Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T Vulto-van Silfhout, Farah R Zahir, Hamish S Scott, Rachel K Earl, Evan E Eichler, Neeta L Vora, Yael Wilnai, Jessica L Giordano, Ronald J Wapner, Jill A Rosenfeld, Monique C Haak, Gijs W E Santen
No abstract text is available yet for this article.
February 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#28
Stella Mouskou, Sofia Leka-Emiri, Anastasia Korona, Sotiria Mastroyanni, Emmanouil Manolakos, Ioannis Papoulidis, Nick Sekouris, Adamantios Katerelos, Efstathia Katsarou-Pectasides, Konstantinos Voudris
INTRODUCTION: Coffin-Siris syndrome (CSS) (MIM #135900) is an extremely rare genetic multisystemic disorder characterized by aplasia or hypoplasia of the upper phalanx of the fifth finger, moderate to severe cognitive and/or developmental delay, and characteristic facial features (thick lashes, hypertrichosis of the trunk, sparse hair). Congenital anomalies of the brain, kidney, and heart have been described but are less consistent across patients. CASE PRESENTATION: We report a case of a 12-year-5-month-old girl with the clinical features of CSS, severe scoliosis, and epilepsy...
December 2022: Molecular Syndromology
#29
Nina Hollander, Gavin William Ten Tusscher
Coffin-Siris syndrome is a rare disorder, which can be difficult to recognize. A broad spectrum of nonspecific clinical features is associated with Coffin-Siris syndrome, and the expression of these features is diverse. We describe two cases with Coffin-Siris syndrome with mutations in the ARID1A gene, with dissimilar presentation and clinical course.
December 2022: Clinical Case Reports
#30
JOURNAL ARTICLE
Sofía Muñoz, Andrew Jones, Céline Bouchoux, Tegan Gilmore, Harshil Patel, Frank Uhlmann
The cohesin complex participates in many structural and functional aspects of genome organization. Cohesin recruitment onto chromosomes requires nucleosome-free DNA and the Scc2-Scc4 cohesin loader complex that catalyzes topological cohesin loading. Additionally, the cohesin loader facilitates promoter nucleosome clearance in a yet unknown way, and it recognizes chromatin receptors such as the RSC chromatin remodeler. Here, we explore the cohesin loader-RSC interaction. Amongst multi-pronged contacts by Scc2 and Scc4, we find that Scc4 contacts a conserved patch on the RSC ATPase motor module...
December 13, 2022: Nature Communications
#31
JOURNAL ARTICLE
Raymond Belanger Deloge, Xiaonan Zhao, Pamela N Luna, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott
Evidence suggests that genetic factors contribute to the development of anorectal malformations (ARMs). However, the etiology of the majority of ARMs cases remains unclear. Exome sequencing (ES) may be underutilized in the diagnostic workup of ARMs due to uncertainty regarding its diagnostic yield. In a clinical database of ~17,000 individuals referred for ES, we identified 130 individuals with syndromic ARMs. A definitive or probable diagnosis was made in 45 of these individuals for a diagnostic yield of 34...
December 6, 2022: European Journal of Human Genetics: EJHG
#32
JOURNAL ARTICLE
Xiaomeng Yang, Chen Liu, Haiyan Zhang, Yuqiang Lv, Yue Li, Zilong Li, Yi Liu, Zhongtao Gai
Coffin-Siris syndrome 1 (CSS1) is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Mutations in the ARID1B gene are the most common cause of CSS1. Here, we generated an induced pluripotent stem cell line SDQLCHi045-A from a one-year-old girl with CSS1 caused by heterozygous mutation (c.1924C>T, p.Q642X) in the ARID1B gene (OMIM*135900). The established iPSC line was validated by pluripotency markers, original gene mutation and demonstrated trilineage differentiation potential in vitro...
November 24, 2022: Stem Cell Research
#33
JOURNAL ARTICLE
Youwei Bao, Xiaoli Pan, Shuqing Pan, Lisha Ge, Danyan Zhuang, Haibo Li
OBJECTIVE: To explore the clinical phenotype and genetic basis for a fetus suspected for Coffin-Siris syndrome. METHODS: Chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were carried out for the fetus. Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasound at 23rd gestational week has revealed fetal ventriculomegaly. No abnormality was found by CMA, while WES revealed that the fetus has harbored a de novo heterozygous c...
December 10, 2022: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#34
Greta Asadauskaitė, Aušra Morkūnienė, Algirdas Utkus, Birutė Burnytė
BACKGROUND: Pathogenic heterozygous variants in BICRA have recently been identified in patients with SWI/SNF-related intellectual disability (SSRIDD) - Coffin-Siris syndrome 12. So far, only one article reported SSRIDD associated with pathogenic variants in BICRA. CASE PRESENTATION: The patient's phenotype include low birth weight, microcephaly, neurodevelopment delay, visual, gastrointestinal, urinary tract impairment, and craniofacial dysmorphism. Whole exome sequencing revealed a novel pathogenic heterozygous variant in exon 6 of BICRA gene c...
November 24, 2022: Brain & Development
#35
Martina Rimoldi, Berardo Rinaldi, Roberta Villa, Jacopo Cerasani, Benedetta Beltrami, Maria Iascone, Rosamaria Silipigni, Simona Boito, Silvana Gangi, Lorenzo Colombo, Matteo Porro, Claudia Cesaretti, Maria Francesca Bedeschi
Coffin-Siris Syndrome (CSS) is a rare multi-system dominant condition with a variable clinical presentation mainly characterized by hypoplasia/aplasia of the nail and/or distal phalanx of the fifth digit, coarse facies, hirsutism/hypertrichosis, developmental delay and intellectual disability of variable degree and growth impairment. Congenital anomalies may include cardiac, genitourinary and central nervous system malformations whereas congenital diaphragmatic hernia (CDH) is rarely reported. The genes usually involved in CSS pathogenesis are ARID1B (most frequently), SMARCA4, SMARCB1, ARID1A, SMARCE1, DPF2, and PHF6...
November 23, 2022: American Journal of Medical Genetics. Part A
#36
JOURNAL ARTICLE
Estelle Colin, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Hana Safraou, Julian Delanne, Nolwenn Jean-Marçais, Boris Keren, Bertrand Isidor, Marie Vincent, Cyril Mignot, Delphine Heron, Alexandra Afenjar, Solveig Heide, Anne Faudet, Perrine Charles, Sylvie Odent, Yvan Herenger, Arthur Sorlin, Sébastien Moutton, Jennifer Kerkhof, Haley McConkey, Martin Chevarin, Charlotte Poë, Victor Couturier, Valentin Bourgeois, Patrick Callier, Anne Boland, Robert Olaso, Christophe Philippe, Bekim Sadikovic, Christel Thauvin-Robinet, Laurence Faivre, Jean-François Deleuze, Antonio Vitobello
Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological diagnosis in up to 50% of individuals with heterogeneous neurodevelopmental or malformation disorders. There is a growing interest in additional omics technologies in translational research settings to examine the remaining unsolved cases. Methods: We gathered 30 individuals with malformation syndromes and/or severe neurodevelopmental disorders with negative trio exome sequencing and array comparative genomic hybridization results through a multicenter project...
2022: Frontiers in Cell and Developmental Biology
#37
JOURNAL ARTICLE
Pei-Pei Liu, Shang-Kun Dai, Ting-Wei Mi, Gang-Bin Tang, Zhuo Wang, Hui Wang, Hong-Zhen Du, Yi Tang, Zhao-Qian Teng, Chang-Mei Liu
Mutations in AT-rich interactive domain-containing protein 1A (ARID1A) cause Coffin-Siris syndrome (CSS), a rare genetic disorder that results in mild to severe intellectual disabilities. However, the biological role of ARID1A in the brain remains unclear. In this study, we report that the haploinsufficiency of ARID1A in excitatory neurons causes cognitive impairment and defects in hippocampal synaptic transmission and dendritic morphology in mice. Similarly, human embryonic stem cell-derived excitatory neurons with deleted ARID1A exhibit fewer dendritic branches and spines, and abnormal electrophysiological activity...
November 17, 2022: EMBO Molecular Medicine
#38
JOURNAL ARTICLE
Qiuquan Wang, Jie Wu, Jinyuan Yang, Shasha Huang, Yongyi Yuan, Pu Dai
Coffin-Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin-remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole-exome sequencing (WES) and a series of analyses of growth-related, auditory, and radiological findings in two probands with syndromic sensorineural hearing loss and inner ear malformations who exhibited distinctive facial features, intellectual disability, growth retardation, and fifth finger malformation...
November 11, 2022: American Journal of Medical Genetics. Part A
#39
Yuxia Tan, Jun Chen, Yutang Li, Yedan Liu, Yu Wang, Shungang Xia, Liping Chen, Wei Wei, Zongbo Chen
Coffin-Siris syndrome (CSS) (OMIM #135900) involves multiple congenital malformations, including hypotonia, short stature, sparse scalp hair, a coarse face, prominent eyebrows, a wide mouth, delayed bone age, and hypoplastic or absent fifth fingers/toes or nails, together with developmental delay. The cause of CSS is suggested to be related to alterations in the BRG- or HRBM-associated factor (BAF) pathway in humans. In this gene family, pathogenic variations in the AT-rich interactive domain-containing protein 1B (ARID1B) gene are revealed to be a significant element causing neurodevelopmental disability in patients with CSS...
September 2022: Neurology India
#40
JOURNAL ARTICLE
Michael Ciliberto, Karen Skjei, Ashley Vasko, Samantha Schrier Vergano
Coffin-Siris syndrome (CSS, MIM135900) is a rare multiple congenital anomaly syndrome caused by pathogenic variants in the BAF complex; up to 28% of patients have previously been reported to have seizures, however, a comprehensive review of epilepsy has not been undertaken in this population. The International CSS Patient Report Database was queried for patients with self-reported seizures, epilepsy, and EEG results. Data gathered included demographic data, pathogenic gene variants, seizure characteristics and treatments, and EEG findings...
September 30, 2022: American Journal of Medical Genetics. Part A
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