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

Neural crest cell-derived DKK1 and NEDD4 modulate Wnt signalling in the second heart field to orchestrate outflow tract development.

神经嵴细胞衍生的 DKK1 和 NEDD4 调节第二心场中的 Wnt 信号传导,从而协调流出道的发育。

Wiszniak Sophie, Alankarage Dimuthu, Lohraseb Iman, Marchant Ceilidh, Secker Genevieve, Domingo Deepti, Hartmann Jasmine, Zhang Tianyang, Parker Wendy, Toubia John, White Melissa, Piltz Sandra, Tondl Markus, Giannoulatou Eleni, Winlaw David, Blue Gillian M, Tam Patrick P L, Thomas Paul, Harvey Natasha, Dunwoodie Sally L, Schwarz Quenten

Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease

SMAD5基因的单倍体不足变异与孤立性先天性心脏病相关

Alankarage, Dimuthu; Leshchynska, Iryna; Portelli, Stephanie; Sipka, Alena; Blue, Gillian M; O'Reilly, Victoria; Das, Debjani; Rath, Emma M; Enriquez, Annabelle; Troup, Michael; Fine, Miriam; Poplawski, Nicola; Verlee, Maxim; Humphreys, David T; Harvey, Richard P; Chapman, Gavin; Kirk, Edwin P; Winlaw, David S; Callewaert, Bert; Chung, Wendy K; Ascher, David; Giannoulatou, Eleni; Dunwoodie, Sally L

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

NADSYN1依赖性先天性NAD缺乏症的代谢特征

Szot, Justin O; Cuny, Hartmut; Martin, Ella Mma; Sheng, Delicia Z; Iyer, Kavitha; Portelli, Stephanie; Nguyen, Vivien; Gereis, Jessica M; Alankarage, Dimuthu; Chitayat, David; Chong, Karen; Wentzensen, Ingrid M; Vincent-Delormé, Catherine; Lermine, Alban; Burkitt-Wright, Emma; Ji, Weizhen; Jeffries, Lauren; Pais, Lynn S; Tan, Tiong Y; Pitt, James; Wise, Cheryl A; Wright, Helen; Andrews, Israel D; Pruniski, Brianna; Grebe, Theresa A; Corsten-Janssen, Nicole; Bouman, Katelijne; Poulton, Cathryn; Prakash, Supraja; Keren, Boris; Brown, Natasha J; Hunter, Matthew F; Heath, Oliver; Lakhani, Saquib A; McDermott, John H; Ascher, David B; Chapman, Gavin; Bozon, Kayleigh; Dunwoodie, Sally L

Remediation options to reduce bioaccessible and bioavailable lead and arsenic at a smelter impacted site - consideration of treatment efficacy

冶炼厂污染场地中生物可及性和生物有效性铅砷的修复方案——考虑处理效果

Alankarage, Dileepa; Betts, Aaron; Scheckel, Kirk G; Herde, Carina; Cavallaro, Michelle; Juhasz, Albert L

Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line

使用先进的交叉线对小鼠心脏房间分隔的遗传复杂性进行定量性状和转录组分析

Mahdi Moradi Marjaneh #, Edwin P Kirk #, Ralph Patrick #, Dimuthu Alankarage, David T Humphreys, Gonzalo Del Monte-Nieto, Paola Cornejo-Paramo, Vaibhao Janbandhu, Tram B Doan, Sally L Dunwoodie, Emily S Wong, Chris Moran, Ian C A Martin, Peter C Thomson, Richard P Harvey

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

Myhre 综合征是由 SMAD4 和其他辅助因子的显性负性失调引起的

Dimuthu Alankarage, Annabelle Enriquez, Robert D Steiner, Cathy Raggio, Megan Higgins, Di Milnes, David T Humphreys, Emma L Duncan, Duncan B Sparrow, Philip F Giampietro, Gavin Chapman, Sally L Dunwoodie

Dataset of differentially expressed genes in mouse P12 testes in response to the loss of ATRX in Sertoli cells

本数据集展示了小鼠 P12 睾丸中因 Sertoli 细胞 ATRX 缺失而导致的差异表达基因的数据集。

Bagheri-Fam, Stefan; Alankarage, Dimuthu; Frost, Emily R; Harley, Vincent R

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants

功能基因组学和基因-环境相互作用凸显了 Notch 通路变异引起的先天性心脏病的复杂性

Gavin Chapman, Julie L M Moreau, Eddie I P, Justin O Szot, Kavitha R Iyer, Hongjun Shi, Michelle X Yam, Victoria C O'Reilly, Annabelle Enriquez, Joelene A Greasby, Dimuthu Alankarage, Ella M M A Martin, Bernadette C Hanna, Matthew Edwards, Steven Monger, Gillian M Blue, David S Winlaw, Helen E Ritch

Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

在患有先天性心脏病的患者中发现的新型 PBX1 从头错义变异的功能表征

Dimuthu Alankarage, Justin O Szot, Nick Pachter, Anne Slavotinek, Licia Selleri, Joseph T Shieh, David Winlaw, Eleni Giannoulatou, Gavin Chapman, Sally L Dunwoodie