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

Timing of NAD Deficiency During Organogenesis Dictates Defect Type and Penetrance

器官发生过程中 NAD 缺乏的时机决定了缺陷类型和外显率

Bozon, Kayleigh; Cuny, Hartmut; Sunn, Nana; Martin, Ella M M A; Sheng, Delicia Z; Chapman, Gavin; Dunwoodie, Sally L

Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects.

卵黄囊 NAD 代谢受损会破坏小鼠胚胎发育,这与人类出生缺陷有关

Bozon Kayleigh, Cuny Hartmut, Sheng Delicia Z, Martin Ella M M A, Sipka Alena, Young Paul, Humphreys David T, Dunwoodie Sally L

Maternal Circulatory NAD Precursor Levels and the Yolk Sac Determine NAD Deficiency-Driven Congenital Malformation Risk

母体循环中 NAD 前体水平和卵黄囊决定 NAD 缺乏引起的先天性畸形风险

Bozon, Kayleigh; Cuny, Hartmut; Sheng, Delicia Z; Sipka, Alena; Shand, Antonia W; Nassar, Natasha; Dunwoodie, Sally L

Identification of potential NAD-related biomarkers of recurrent miscarriage risk

识别与复发性流产风险相关的潜在NAD相关生物标志物

Cuny, Hartmut; Shand, Antonia W; Goth, Jennifer; Sheng, Delicia Z; Tossey, Tamarah; Martin, Ella M M A; Sipka, Alena; Aleshin, Olga; Schneuer, Francisco J; Nassar, Natasha; 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

Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice

小鼠中Slc6a19基因的母系杂合性会导致代谢紊乱和先天性NAD缺乏症。

Cuny, Hartmut; Bozon, Kayleigh; Kirk, Rosemary B; Sheng, Delicia Z; Bröer, Stefan; Dunwoodie, Sally L

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

NADSYN1基因的双等位基因突变会导致多器官缺陷,并扩大先天性NAD缺乏症的基因型谱。

Szot, Justin O; Campagnolo, Carla; Cao, Ye; Iyer, Kavitha R; Cuny, Hartmut; Drysdale, Thomas; Flores-Daboub, Josue A; Bi, Weimin; Westerfield, Lauren; Liu, Pengfei; Leung, Tse Ngong; Choy, Kwong Wai; Chapman, Gavin; Xiao, Rui; Siu, Victoria M; Dunwoodie, Sally L

α-Conotoxins active at α3-containing nicotinic acetylcholine receptors and their molecular determinants for selective inhibition

α-芋螺毒素对含α3亚基的尼古丁乙酰胆碱受体具有活性,以及其选择性抑制的分子决定因素

Cuny, Hartmut; Yu, Rilei; Tae, Han-Shen; Kompella, Shiva N; Adams, David J

Key Structural Determinants in the Agonist Binding Loops of Human β2 and β4 Nicotinic Acetylcholine Receptor Subunits Contribute to α3β4 Subtype Selectivity of α-Conotoxins

人β2和β4尼古丁乙酰胆碱受体亚基激动剂结合环的关键结构决定因素导致α-芋螺毒素对α3β4亚型的选择性

Cuny, Hartmut; Kompella, Shiva N; Tae, Han-Shen; Yu, Rilei; Adams, David J

Differential Cav2.1 and Cav2.3 channel inhibition by baclofen and α-conotoxin Vc1.1 via GABAB receptor activation

巴氯芬和α-芋螺毒素Vc1.1通过GABAB受体激活对Cav2.1和Cav2.3通道的差异性抑制

Berecki, Géza; McArthur, Jeffrey R; Cuny, Hartmut; Clark, Richard J; Adams, David J