日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

黏连蛋白装载亚基 MAU2 的致病性变异导致一种新的科内莉亚·德·兰格综合征亚型

Parenti, Ilaria; Hesters, Alina; Gil-Salvador, Marta; Duffy, Laura; Kanber, Deniz; Beygo, Jasmin; Kerkhof, Jennifer; Steenpaß, Laura; Leitão, Elsa; Woestefeld, Julia; Boone, Philip M; Kao, Emeline M; Alabdi, Lama; Aldhalaan, Hesham M; Alkuraya, Fowzan S; Alshammari, Muneera J; Antonarakis, Stylianos E; Basel, Donald; Cassinari, Kevin; de Polli Cellin, Laurana; Clause, Amanda R; de Lima Jorge, Alexander Augusto; de Castro Leal, Andréa; Collins, Stephan C; Durand, Benjamin; Eckhold, Juliane; Hashem, Mais O; Jayakar, Parul; Khan, Arif O; Kato, Kohji; Kubica, Regina; Lyon, Gholson J; Marchi, Elaine; McCarrier, Julie; Kimmig, Lara K; Mizuno, Seiji; Nicolas, Gael; Nishio, Yosuke; Ogi, Tomoo; Pié, Juan; Prell, Jordyn; Puisac, Beatriz; Ramos, Feliciano J; Ranza, Emmanuelle; Redin, Claire; Rush, Eric; Saitoh, Shinji; Shamseldin, Hanan E; Starling, Susan; Astiazaran-Symonds, Esteban; Taher, Sara; Kuechler, Alma; Sadikovic, Bekim; Yalcin, Binnaz; Wendt, Kerstin S; Kaiser, Frank J

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations

ZSCAN10 缺陷会导致一种神经发育障碍,其特征是耳面部畸形。

Laugwitz, Lucia; Cheng, Fubo; Collins, Stephan C; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sébastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B

De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes

在三个不同的精神分裂症人群中发现的新生变异体,均与微管和肌动蛋白细胞骨架基因本体论类别相关的共同核心基因网络有关。

Loe-Mie, Yann; Plançon, Christine; Dubertret, Caroline; Yoshikawa, Takeo; Yalcin, Binnaz; Collins, Stephan C; Boland, Anne; Deleuze, Jean-François; Gorwood, Philip; Benmessaoud, Dalila; Simonneau, Michel; Lepagnol-Bestel, Aude-Marie

A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null Mice

一个受到正向选择的MAGEE2 LoF等位基因与人类大脑大小的性别二态性相关,并在Magee2基因敲除小鼠中表现出类似的表型。

Szpak, Michał; Collins, Stephan C; Li, Yan; Liu, Xiao; Ayub, Qasim; Fischer, Marie-Christine; Vancollie, Valerie E; Lelliott, Christopher J; Xue, Yali; Yalcin, Binnaz; Yang, Huanming; Tyler-Smith, Chris

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

KDM4B基因杂合变异导致全面发育迟缓和神经解剖缺陷

Duncan, Anna R; Vitobello, Antonio; Collins, Stephan C; Vancollie, Valerie E; Lelliott, Christopher J; Rodan, Lance; Shi, Jiahai; Seman, Ann R; Agolini, Emanuele; Novelli, Antonio; Prontera, Paolo; Guillen Sacoto, Maria J; Santiago-Sim, Teresa; Trimouille, Aurélien; Goizet, Cyril; Nizon, Mathilde; Bruel, Ange-Line; Philippe, Christophe; Grant, Patricia E; Wojcik, Monica H; Stoler, Joan; Genetti, Casie A; van Dooren, Marieke F; Maas, Saskia M; Alders, Marielle; Faivre, Laurence; Sorlin, Arthur; Yoon, Grace; Yalcin, Binnaz; Agrawal, Pankaj B

Topological analysis of metabolic networks integrating co-segregating transcriptomes and metabolomes in type 2 diabetic rat congenic series

对2型糖尿病大鼠同源系列中共分离的转录组和代谢组进行代谢网络拓扑分析

Dumas, Marc-Emmanuel; Domange, Céline; Calderari, Sophie; Martínez, Andrea Rodríguez; Ayala, Rafael; Wilder, Steven P; Suárez-Zamorano, Nicolas; Collins, Stephan C; Wallis, Robert H; Gu, Quan; Wang, Yulan; Hue, Christophe; Otto, Georg W; Argoud, Karène; Navratil, Vincent; Mitchell, Steve C; Lindon, John C; Holmes, Elaine; Cazier, Jean-Baptiste; Nicholson, Jeremy K; Gauguier, Dominique

Increased Expression of the Diabetes Gene SOX4 Reduces Insulin Secretion by Impaired Fusion Pore Expansion

糖尿病基因SOX4表达增加通过损害融合孔扩张来减少胰岛素分泌

Collins, Stephan C; Do, Hyun Woong; Hastoy, Benoit; Hugill, Alison; Adam, Julie; Chibalina, Margarita V; Galvanovskis, Juris; Godazgar, Mahdieh; Lee, Sheena; Goldsworthy, Michelle; Salehi, Albert; Tarasov, Andrei I; Rosengren, Anders H; Cox, Roger; Rorsman, Patrik

Transcriptome Profiling in Rat Inbred Strains and Experimental Cross Reveals Discrepant Genetic Architecture of Genome-Wide Gene Expression

大鼠近交系和实验杂交系的转录组分析揭示了全基因组基因表达的差异性遗传结构

Kaisaki, Pamela J; Otto, Georg W; Argoud, Karène; Collins, Stephan C; Wallis, Robert H; Wilder, Steven P; Yau, Anthony C Y; Hue, Christophe; Calderari, Sophie; Bihoreau, Marie-Thérèse; Cazier, Jean-Baptiste; Mott, Richard; Gauguier, Dominique

Nicotinic Acid Adenine Dinucleotide Phosphate (NAADP) and Endolysosomal Two-pore Channels Modulate Membrane Excitability and Stimulus-Secretion Coupling in Mouse Pancreatic β Cells

烟酸腺嘌呤二核苷酸磷酸(NAADP)和内溶酶体双孔通道调节小鼠胰岛β细胞的膜兴奋性和刺激-分泌偶联

Arredouani, Abdelilah; Ruas, Margarida; Collins, Stephan C; Parkesh, Raman; Clough, Frederick; Pillinger, Toby; Coltart, George; Rietdorf, Katja; Royle, Andrew; Johnson, Paul; Braun, Matthias; Zhang, Quan; Sones, William; Shimomura, Kenju; Morgan, Anthony J; Lewis, Alexander M; Chuang, Kai-Ting; Tunn, Ruth; Gadea, Joaquin; Teboul, Lydia; Heister, Paula M; Tynan, Patricia W; Bellomo, Elisa A; Rutter, Guy A; Rorsman, Patrik; Churchill, Grant C; Parrington, John; Galione, Antony