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

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels

脊椎动物TMC1/2和CIB2/3蛋白复合物形成毛细胞机械转导阳离子通道

Giese, Arnaud P J; Weng, Wei-Hsiang; Kindt, Katie S; Chang, Hui Ho Vanessa; Montgomery, Jonathan S; Ratzan, Evan M; Beirl, Alisha J; Aponte Rivera, Roberto; Lotthammer, Jeffrey M; Walujkar, Sanket; Foster, Mark P; Zobeiri, Omid A; Holt, Jeffrey R; Riazuddin, Saima; Cullen, Kathleen E; Sotomayor, Marcos; Ahmed, Zubair M

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements

GOT2 缺乏症的全面基因型、表型和生化特征分析:一种伴有癫痫和异常运动的进行性神经发育障碍

German, Hannah M; Zaki, Maha S; Usmani, Muhammad A; Karagoz, Irem; Efthymiou, Stephanie; Abdel-Hamid, Mohamed S; Arabiyat, Haya Abdelhafez; Ghaffar, Amama; Shahzad, Mohsin; van Bokhoven, Hans; Ahmed, Zubair M; Yaghini, Omid; Hosseini, Neda; Majidinezhad, Maede; Alavi, Shahryar; Bosma, Marjolein; Broeks, Melissa H; Türkdoğan, Dilşad; Suri, Mohnish; Laura de Godoy, Laiz; Verhoeven-Duif, Nanda M; Riazuddin, Sheikh; Gleeson, Joseph G; Alves, Cesar; Jans, Judith J M; Riazuddin, Saima; Houlden, Henry; Maroofian, Reza

A Novel SLPI Splice Variant Confers Susceptibility to Otitis Media in Humans

一种新型SLPI剪接变体使人类易患中耳炎

Elling, Christina L; Ryan, Allen F; Yarza, Talitha Karisse L; Ghaffar, Amama; Llanes, Erasmo Gonzalo D V; Kofonow, Jennifer M; Reyes-Quintos, Maria Rina T; Riazuddin, Saima; Robertson, Charles E; Tantoco, Ma Leah C; Ahmed, Zubair M; Chan, Abner L; Frank, Daniel N; Chiong, Charlotte M; Santos-Cortez, Regie Lyn P

CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture

CIB2 的功能与 whirlin 在立体纤毛结构组织中的作用截然不同。

Giese, Arnaud P J; Parker, Andrew; Rehman, Sakina; Brown, Steve D M; Riazuddin, Saima; Vander Kooi, Craig W; Bowl, Michael R; Ahmed, Zubair M

MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity.

MSRB3 抗氧化活性对于内耳角质层结构和毛束完整性是必需的

Nayak Gowri, Richard Elodie M, Lee Byung Cheon, Riordan Gavin P, Belyantseva Inna A, Manta Bruno, Friedman Thomas B, Gladyshev Vadim N, Riazuddin Saima

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

NAV3 是一种神经元形态发生蛋白,其变异会导致智力障碍、发育迟缓和小头畸形

Ghaffar Amama, Akhter Tehmeena, Strømme Petter, Misceo Doriana, Khan Amjad, Frengen Eirik, Umair Muhammad, Isidor Bertrand, Cogné Benjamin, Khan Asma A, Bruel Ange-Line, Sorlin Arthur, Kuentz Paul, Chiaverini Christine, Innes A Micheil, Zech Michael, Baláž Marek, Havrankova Petra, Jech Robert, Ahmed Zubair M, Riazuddin Sheikh, Riazuddin Saima

A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred

巴基斯坦某家族中HACE1基因错义变异与智力障碍、癫痫、痉挛和精神运动障碍相关

Usmani, Muhammad A; Ghaffar, Amama; Shahzad, Mohsin; Akram, Javed; Majeed, Aisha I; Malik, Kausar; Fatima, Khushbakht; Khan, Asma A; Ahmed, Zubair M; Riazuddin, Sheikh; Riazuddin, Saima

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F

基于双 AAV 的 PCDH15 基因治疗在 Usher 综合征 1F 小鼠模型中实现了视觉功能的持续挽救

Sehar Riaz, Saumil Sethna, Todd Duncan, Muhammad A Naeem, T Michael Redmond, Sheikh Riazuddin, Saima Riazuddin, Livia S Carvalho, Zubair M Ahmed