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

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.

个间质性肺病家族中的双等位基因 LAMP3 变异:疾病基因关联的证据。

Keehan Laura A, Ono-Minagi Hitomi, Hadhud Mohamad, Rips Jonathan, Hinds Daniel M, Fischer Anthony J, Bartlett Jennifer A, McCray Paul B, Qawasmi Nada, Nathan Nadia, Louvrier Camille, Desroziers Tifenn, Damme Markus, Griese Matthias, Wegner Daniel J, Cole F Sessions, Wambach Jennifer A, Wheeler Matthew T, Burbelo Peter D, Bonner Devon E, Bernstein Jonathan A, Chiorini John A, Breuer Oded, Milla Carlos

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

儿童间质性肺病中的双等位基因 LAMP3 变异:一种与表面活性剂相关的疾病

Louvrier Camille, Desroziers Tifenn, Soreze Yohan, Delgado Rodriguez Martha, Thomas Lucie, Nau Valérie, Dastot-Le Moal Florence, Bernstein Jonathan A, Cole F Sessions, Damme Markus, Fischer Anthony, Griese Matthias, Hinds Daniel, Keehan Laura, Milla Carlos, Mohammad Hadhud, Rips Jonathan, Wambach Jennifer A, Wegner Daniel J, Amselem Serge, Legendre Marie, Giurgea Irina, Karabina Sonia Athina, Breuer Oded, Coulomb l'Herminé Aurore, Nathan Nadia

Weak Age Restriction Enforcement and Retailer Proliferation Reveal Limits in Tobacco Control Policy

年龄限制执行不力及零售商数量激增暴露出烟草控制政策的局限性

Fischer, Anthony J; Krogh, Justin D; Boyle, Miah; Saad, Yosra; Frahm, Allison; Teresi, Mary; Carrel, Margaret

Approaches for identification of 5' UTR mutations impacting translation and protein production from neurodevelopmental disorder genes.

识别影响神经发育障碍基因翻译和蛋白质产生的 5' UTR 突变的方法。

Plassmeyer Stephen P, Florian Colin P, Chase Rebecca, Kasper Michael J, Mueller Shayna, Liu Yating, McFarland White Kelli, Sierra-Cortez Llaelyn, Fischer Anthony D, Jungers Courtney F, Djuranovic Slavica Pavlovic, Djuranovic Sergej, Dougherty Joseph D

Theratyping as a tool to guide clinical decision-making in patients with suspected cystic fibrosis and variants currently ineligible for CFTR modulator therapy

分型可作为指导临床决策的工具,用于疑似囊性纤维化且目前不适合接受 CFTR 调节剂治疗的变异患者。

Gannon, Ryan M; Wright, Brittany A; Bettis, Brandon A; Teresi, Mary E; Fischer, Anthony J; Weiner, Rebecca L; Peña, Tahuanty; Hornick, Douglas B; Thornell, Ian M; Rehman, Tayyab; Pezzulo, Alejandro A

Genetic Concordance of Staphylococcus aureus From Oropharyngeal and Sputum Cultures in People With Cystic Fibrosis

囊性纤维化患者口咽和痰培养中金黄色葡萄球菌的遗传一致性

Zirbes, Christian F; Feder, Andries; Pamatmat, Anthony J; Bartels, Alyssa R; Pitcher, Nicholas J; Rozen, Alexis L; Teresi, Mary; Krogh, Justin; Regan, Margaret; Arnold, Erin A; Hill, Jared J; Reinhardt, Lindsey D; Oberto, Carlos L; Boyken, Linda; Reeb, Valérie C; Moustafa, Ahmed M; Planet, Paul J; Fischer, Anthony J

Pancreatic enzymes digest obstructive meconium from cystic fibrosis pig intestines

胰酶可消化囊性纤维化猪肠道中的阻塞性胎粪

Gangadharan Nambiar, Gopinathan; Gonzalez Szachowicz, Sussette; Zirbes, Christian F; Hill, Jared J; Powers, Linda S; Meyerholz, David K; Thornell, Ian M; Stoltz, David A; Fischer, Anthony J

Development and Initial Characterization of Pigs with DNAI1 Mutations and Primary Ciliary Dyskinesia

DNAI1突变和原发性纤毛运动障碍猪的发育和初步表征

Abou Alaiwa, Mahmoud A; Hilkin, Brie M; Price, Margaret P; Gansemer, Nicholas D; Rector, Michael R; Stroik, Mal R; Powers, Linda S; Whitworth, Kristin M; Samuel, Melissa S; Jain, Akansha; Ostedgaard, Lynda S; Ernst, Sarah E; Philibert, Winter; Boyken, Linda D; Moninger, Thomas O; Karp, Phillip H; Hornick, Douglas B; Sinn, Patrick L; Fischer, Anthony J; Pezzulo, Alejandro A; McCray, Paul B Jr; Meyerholz, David K; Zabner, Joseph; Prather, Randy S; Welsh, Michael J; Stoltz, David A

Parallel evolution of linezolid-resistant Staphylococcus aureus in patients with cystic fibrosis

囊性纤维化患者中利奈唑胺耐药金黄色葡萄球菌的平行演变

Pitcher, Nicholas J; Feder, Andries; Bolden, Nicholas; Zirbes, Christian F; Pamatmat, Anthony J; Boyken, Linda; Hill, Jared J; Bartels, Alyssa R; Thurman, Andrew L; Reeb, Valerie C; Porterfield, Harry S; Moustafa, Ahmed M; Planet, Paul J; Fischer, Anthony J

Production of a p65fl/fl/LysMCre mouse model with dysfunctional NF-κB signaling in bone marrow-derived macrophages

构建骨髓来源巨噬细胞中NF-κB信号通路功能障碍的p65fl/fl/LysMCre小鼠模型

Ahmet K Korkaya ,Jeffrey Fischer ,Anthony Peppers ,Sean M Crosson ,Manira Rayamajhi ,Edward A Miao ,Albert S Baldwin Jr ,Jennifer W Bradford