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

Type 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome

型先天免疫促进 Hermansky-Pudlak 综合征肺纤维化的发展

Parand Sorkhdini, Kiran Klubock-Shukla, Selena Sheth, Dongqin Yang, Alina Xiaoyu Yang, Carmelissa Norbrun, Wendy J Introne, Bernadette R Gochuico, Yang Zhou

LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size

LYST 缺乏会损害神经元中的自噬溶酶体重组,并改变溶酶体的数量和大小

Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony Cougnoux, Keyvan Keyvanfar, Wendy J Introne, Joseph A Brzostowski, Michael E Ward, William A Gahl, Prashant Sharma, May Christine V Malicdan

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

双等位基因ATG4D变异与一种以言语和运动障碍为特征的神经发育障碍相关。

Marie Morimoto ,Vikas Bhambhani ,Nour Gazzaz ,Mariska Davids ,Paalini Sathiyaseelan ,Ellen F Macnamara ,Jennifer Lange, Anna Lehman ,Patricia M Zerfas ,Jennifer L Murphy ,Maria T Acosta ,Camille Wang ,Emily Alderman ,Audrey Thurm ,David R Adams ,Wendy J Introne ,Sharon M Gorski ,Cornelius F Boerkoel ,William A Gahl ,Cynthia J Tifft ,May Christine V Malicdan

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

cDNA 测序提高了 Chediak-Higashi 综合征的分子诊断效率

Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Carla Ciccone, Meral Gunay-Aygun, William A Gahl, Wendy J Introne, May Christine V Malicdan

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

半胱氨酰-tRNA 合成酶突变可导致多系统隐性疾病,包括小头畸形、发育迟缓以及头发和指甲脆弱

Molly E Kuo, Arjan F Theil, Anneke Kievit, May Christine Malicdan, Wendy J Introne, Thomas Christian, Frans W Verheijen, Desiree E C Smith, Marisa I Mendes, Lidia Hussaarts-Odijk, Eric van der Meijden, Marjon van Slegtenhorst, Martina Wilke, Wim Vermeulen, Anja Raams, Catherine Groden, Shino Shimada

An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome

肌动蛋白细胞骨架屏障抑制 Chediak-Higashi 综合征患者的自然杀伤细胞释放溶解颗粒

Aleksandra Gil-Krzewska, Mezida B Saeed, Anna Oszmiana, Elizabeth R Fischer, Kathryn Lagrue, William A Gahl, Wendy J Introne, John E Coligan, Daniel M Davis, Konrad Krzewski

Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells

Chediak-Higashi 综合征:溶酶体运输调节域调节溶解颗粒的胞吐,但不调节自然杀伤细胞的细胞因子分泌

Aleksandra Gil-Krzewska, Stephanie M Wood, Yousuke Murakami, Victoria Nguyen, Samuel C C Chiang, Andrew R Cullinane, Giovanna Peruzzi, William A Gahl, John E Coligan, Wendy J Introne, Yenan T Bryceson, Konrad Krzewski

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

对疑似患有 Smith-Magenis 综合征且未发生 17p11.2 缺失的患者进行视黄酸诱导 1 基因 (RAI1) 的分子分析

Thierry Vilboux, Carla Ciccone, Jan K Blancato, Gerald F Cox, Charu Deshpande, Wendy J Introne, William A Gahl, Ann C M Smith, Marjan Huizing