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

Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (USP53) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1-3 and Granular Dentate with AMPA Synapse Interactions

近亲家族的基因组测序表明泛素特异性蛋白酶 53 (USP53) 变体与精神病/精神分裂症有关:小鼠海马 CA 1-3 和颗粒齿状体中的野生型表达与 AMPA 突触相互作用

Ambreen Kanwal, Sohail A Sheikh, Faiza Aslam, Samina Yaseen, Zachary Beetham, Nathan Pankratz, Connie R Clabots, Sadaf Naz, José V Pardo

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

双等位基因 KIF24 变异可导致一系列骨骼疾病,从致命的骨骼纤毛病到严重的肢端发育不良

Madeline Louise Reilly, Noor Ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Högler, Maarten F C M Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valérie Cormier-Daire, Alexandre Benmerah, Outi Makitie

RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias

RGS3 和 IL1RAPL1 错义变异表明早发性遗传性精神分裂症存在神经传递缺陷

Ambreen Kanwal, José V Pardo, Sadaf Naz

Therapeutic Potential of Selected Medicinal Plant Extracts against Multi-Drug Resistant Salmonella enterica serovar Typhi

选定的药用植物提取物对多重耐药性伤寒沙门氏菌的治疗潜力

Sadaf Naz, Sadia Alam, Waseem Ahmed, Shah Masaud Khan, Abdul Qayyum, Maimoona Sabir, Alia Naz, Asia Iqbal, Yamin Bibi, Sobia Nisa, Amany Salah Khalifa, Amal F Gharib, Ahmad El Askary

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

双等位基因 TTC5 变异导致发育里程碑延迟和智力障碍

Arisha Rasheed #, Evren Gumus #, Maha Zaki #, Katherine Johnson, Humera Manzoor, Geneva LaForce, Danica Ross, Jennifer McEvoy-Venneri, Valentina Stanley, Sangmoon Lee, Abbir Virani, Tawfeg Ben-Omran, Joseph G Gleeson, Sadaf Naz #, Ashleigh Schaffer #1

Variants of human CLDN9 cause mild to profound hearing loss

人类CLDN9基因变异会导致轻度至重度听力损失。

Memoona Ramzan,Christophe Philippe,Inna A Belyantseva,Yoko Nakano,Cristina Fenollar-Ferrer,Risa Tona,Rizwan Yousaf,Rasheeda Basheer,Ayesha Imtiaz,Rabia Faridi,Zunaira Munir,Hafiza Idrees,Midhat Salman,Sophie Nambot,Antonio Vitobello,Souad Kartti,Oumaima Zarrik,P Dane Witmer,Nara Sobreria,Azeddine Ibrahimi,Botond Banfi,Sebastien Moutton,Thomas B Friedman,Sadaf Naz

Myeloperoxidase and elastase are only expressed by neutrophils in normal and in inflamed liver

髓过氧化物酶和弹性蛋白酶仅在正常肝脏和炎症肝脏中的中性粒细胞中表达。

Amanzada, Ahmad; Malik, Ihtzaz Ahmed; Nischwitz, Martin; Sultan, Sadaf; Naz, Naila; Ramadori, Giuliano