Works by Aziz, Aziz Ur Rehman

Results: 34

A Novel Missense Variant in Ultrarare SLC35A1‐CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6290620

By:

Falkenstein, Kristina;
Hoeren, Lukas;
Kikul, Frauke;
Poschet, Gernot;
Lüchtenborg, Christian;
Brecht, Ines B.;
Falb, Ruth;
Gauck, Darja;
Haack, Tobias;
Hecker, Andreas;
Himmelreich, Nastassja;
Okun, Jürgen G.;
Brügger, Britta;
Thiel, Christian;
Aziz, Aziz ur Rehman.

Publication type:

Article

A Novel Germline MUTYH Mutation (p.W156∗) in High‐Grade Astrocytoma, IDH Mutant.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/4321571

By:

Zhang, Lulu;
Xi, Shaoyan;
Yuan, Lei;
Li, Ziteng;
Liu, Xiaoyun;
Gu, Jiamei;
Li, Shuo;
Huang, Liyun;
Hu, Wanming;
Fu, Lingyi;
Aziz, Aziz ur Rehman

Publication type:

Article

The mutual interplay between NTRK fusion genes and human papillomavirus infection in cervical cancer progression (Review).

Published in:

Molecular & Clinical Oncology, 2024, v. 21, n. 4, p. N.PAG, doi. 10.3892/mco.2024.2765

By:

Aziz, Aziz Ur Rehman;
Zhang, Jianing;
Zhang, Chan;
Yu, Xiaohui;
Wang, Daqing

Publication type:

Article

Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/3531508

By:

Zanobio, Mariateresa;
Nardecchia, Francesca;
Cappuccio, Gerarda;
Onore, Maria Elena;
Di Letto, Pasquale;
Rahman, Sarah Iffat;
Terrone, Gaetano;
Ugga, Lorenzo;
De Giorgi, Agnese;
Cas, Michele Dei;
Trinchera, Marco;
Leuzzi, Vincenzo;
Piluso, Giulio;
Nigro, Vincenzo;
Brunetti-Pierri, Nicola;
Torella, Annalaura;
Aziz, Aziz ur Rehman

Publication type:

Article

Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6664372

By:

Gladkauskas, Titas;
Cristea, Ileana;
Mehrasa, Roya;
Demoulin, Jean-Baptiste;
Gjertsen, Bjørn Tore;
Bruland, Ove;
Rødahl, Eyvind;
Bredrup, Cecilie;
Aziz, Aziz ur Rehman

Publication type:

Article

Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/1725906

By:

Ranjbarnejad, Tayebeh;
Abolhassani, Hassan;
Sherkat, Roya;
Salehi, Mansoor;
Ranjbarnejad, Fatemeh;
Vatandoost, Nasimeh;
Sharifi, Mohammadreza;
Aziz, Aziz ur Rehman

Publication type:

Article

Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/1497712

By:

You, Qingqing;
Liu, Jingwei;
Zhang, Ran;
Wang, Zhi;
Zhang, Bingying;
Guo, Wencong;
Xu, Ning;
Bottillo, Irene;
Shao, Leping;
Aziz, Aziz ur Rehman

Publication type:

Article

Identification of Novel USH2A Mutations in a Consanguineous Chinese Family With Usher Syndrome.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6391770

By:

Wang, Haolin;
Wei, Bo;
Guo, Jiaxin;
Wu, Xiawei;
Zou, Tongdan;
Wang, Ting;
Zhang, Tiantian;
Gong, Bo;
Hao, Jilong;
Zhang, Houbin;
Wang, Le;
Aziz, Aziz ur Rehman

Publication type:

Article

Variants in CAPN3 Causing Autosomal Dominant Limb–Girdle Muscular Dystrophy Combined With Calpain‐3 Deficiency.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/9301465

By:

Krag, Thomas;
Nasho, Emily;
Brady, Lauren;
Verebi, Camille;
Leturcq, France;
Malfatti, Edoardo;
Duno, Morten;
Tarnopolsky, Mark;
Vissing, John;
Aziz, Aziz ur Rehman

Publication type:

Article

Gene Mutation Characteristics and Prognostic Significance in Acute Myeloid Leukemia Patients From Northeast China.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7730186

By:

Shen, Yiyang;
Fu, Shuang;
Liu, Xuan;
Liu, Jianing;
Fu, Yu;
Zhao, Yue;
Wang, Xinxin;
Jiang, Xujian;
Zhang, Jihong;
Aziz, Aziz ur Rehman

Publication type:

Article

High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6382674

By:

Sedghi, Maryam;
Gharehdaghi, Elika Esmaeilzadeh;
Ziaee, Vahid;
Abbasi, Farzaneh;
Meybodi, Hamid Reza Aghaei;
Smiley, Elina;
Mehdizadeh, Mehrzad;
Raeeskarami, Seyyed Reza;
Aslani, Nahid;
Shiran, Sahar Naderi;
Vafadar, Mehdi;
Amoli, Mahsa M.;
Aziz, Aziz ur Rehman

Publication type:

Article

An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene.

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6496088

By:

Clayton, Joshua S.;
Johari, Mridul;
Taylor, Rhonda L.;
Dofash, Lein;
Allan, Georgina;
Monahan, Gavin;
Houweling, Peter J.;
Ravenscroft, Gianina;
Laing, Nigel G.;
Aziz, Aziz ur Rehman

Publication type:

Article

Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review.

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/4678670

By:

Ma, Jian;
Zhang, Hongwei;
Lv, Yuqiang;
Gao, Min;
Gai, Zhongtao;
Liu, Yi;
Aziz, Aziz ur Rehman

Publication type:

Article

Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases.

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8520275

By:

Thet, Monica;
Plazzer, John-Paul;
Capella, Gabriel;
Latchford, Andrew;
Nadeau, Emily A. W.;
Greenblatt, Marc S.;
Macrae, Finlay;
Aziz, Aziz ur Rehman

Publication type:

Article

Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/6420246

By:

Clowes, Virginia;
Ma, Xiaolun;
Maude, Hannah;
Dennis, Catherine;
Gao, Qing;
Quinn, Geraldine;
O'Toole, Edel A.;
Batta, Kapila;
Cebola, Inês;
Cui, Wei;
Aziz, Aziz ur Rehman

Publication type:

Article

A cross-sectional analysis based on GBD data: trends in the global, regional, and national burden of pelvic organ prolapse from 1990 to 2021.

Published in:

Frontiers in Public Health, 2025, p. 1, doi. 10.3389/fpubh.2025.1555946

By:

Wang, Rui;
Li, Wangshu;
Yang, Jinliang;
Aziz, Aziz ur Rehman;
Ha, Chunfang

Publication type:

Article

Visualizing the spatiotemporal map of Rac activation in bovine aortic endothelial cells under laminar and disturbed flows.

Published in:

PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0189088

By:

Shao, Shuai;
Xiang, Cheng;
Qin, Kairong;
ur Rehman Aziz, Aziz;
Liao, Xiaoling;
Liu, Bo

Publication type:

Article

Bladder cancer hunting: A microfluidic paper‐based analytical device.

Published in:

Electrophoresis, 2020, v. 41, n. 16/17, p. 1509, doi. 10.1002/elps.202000080

By:

Jiang, Qingyun;
Han, Tingting;
Ren, Haijun;
Aziz, Aziz Ur Rehman;
Li, Na;
Zhang, Hangyu;
Zhang, Zhengyao;
Liu, Bo

Publication type:

Article

The Analysis of Wall Shear Stress Modulated by Acute Exercise in the Human Common Carotid Artery with an Elastic Tube Model.

Published in:

Computer Modeling in Engineering & Sciences (CMES), 2018, v. 116, n. 2, p. 127, doi. 10.31614/cmes.2018.03985

By:

Yanxia Wang;
Yu Wang;
Siqi Li;
Aziz, Aziz ur Rehman;
Shutian Liu;
Kairong Qin

Publication type:

Article

CAR-NK Cell Therapy: A Transformative Approach to Overcoming Oncological Challenges.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 8, p. 1035, doi. 10.3390/biom14081035

By:

Li, Wangshu;
Wang, Xiuying;
Zhang, Xu;
Aziz, Aziz ur Rehman;
Wang, Daqing

Publication type:

Article

Heat Shock Protein 27 Phosphorylation Regulates Tumor Cell Migration under Shear Stress.

Published in:

Biomolecules (2218-273X), 2019, v. 9, n. 2, p. 50, doi. 10.3390/biom9020050

By:

Zhang, Baohong;
Xie, Fei;
Aziz, Aziz ur Rehman;
Shao, Shuai;
Li, Wang;
Deng, Sha;
Liao, Xiaoling;
Liu, Bo

Publication type:

Article

PIM Kinases and Their Relevance to the PI3K/AKT/mTOR Pathway in the Regulation of Ovarian Cancer.

Published in:

Biomolecules (2218-273X), 2018, v. 8, n. 1, p. 7, doi. 10.3390/biom8010007

By:

Aziz, Aziz Ur Rehman;
Farid, Sumbal;
Qin, Kairong;
Wang, Hanqin;
Liu, Bo

Publication type:

Article

A systematic review on active sites and functions of PIM-1 protein.

Published in:

2022

By:

Zhao, Youyi;
Aziz, Aziz ur Rehman;
Zhang, Hangyu;
Zhang, Zhengyao;
Li, Na;
Liu, Bo

Publication type:

Literature Review

Trends in global and regional incidence and prevalence of hypertensive disordersin pregnancy (1990–2021): an age-period-cohort analysis.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-85819-0

By:

Sun, Shu;
Li, Wangshu;
Zhang, Xu;
Aziz, Aziz ur Rehman;
Zhang, Na

Publication type:

Article

Trends in global and regional incidence and prevalence of hypertensive disordersin pregnancy (1990–2021): an age-period-cohort analysis.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-00192-2

By:

Sun, Shu;
Li, Wangshu;
Zhang, Xu;
Aziz, Aziz ur Rehman;
Zhang, Na

Publication type:

Article

Chimeric antigen receptor-natural killer (CAR-NK) cell immunotherapy: A bibliometric analysis from 2004 to 2023.

Published in:

Human Vaccines & Immunotherapeutics, 2024, v. 20, n. 1, p. 1, doi. 10.1080/21645515.2024.2415187

By:

Li, Wangshu;
Feng, Jiuxiang;
Peng, Jianan;
Zhang, Xu;
Aziz, Aziz Ur Rehman;
Wang, Daqing

Publication type:

Article

The Road to Unconventional Detections: Paper-Based Microfluidic Chips.

Published in:

Micromachines, 2022, v. 13, n. 11, p. 1835, doi. 10.3390/mi13111835

By:

Jin, Yuhang;
Aziz, Aziz ur Rehman;
Wu, Bin;
Lv, Ying;
Zhang, Hangyu;
Li, Na;
Liu, Bo;
Zhang, Zhengyao

Publication type:

Article

A Microfluidic Device for Culturing an Encapsulated Ovarian Follicle.

Published in:

Micromachines, 2017, v. 8, n. 11, p. 335, doi. 10.3390/mi8110335

By:

Aziz Ur Rehman Aziz;
Mengjie Fu;
Jiu Deng;
Chunyang Geng;
Yong Luo;
Bingcheng Lin;
Xiaohui Yu;
Bo Liu

Publication type:

Article

Differential phosphorylation regulates the shear stress‐induced polar activity of Rho‐specific guanine nucleotide dissociation inhibitor α.

Published in:

Journal of Cellular Physiology, 2020, v. 235, n. 10, p. 6978, doi. 10.1002/jcp.29594

By:

Xie, Fei;
Shao, Shuai;
Zhang, Baohong;
Deng, Sha;
Ur Rehman Aziz, Aziz;
Liao, Xiaoling;
Liu, Bo

Publication type:

Article

Effect of Propolis on PPP2R1A and Apoptosis in Cancer Cells.

Published in:

Biochemistry Research International, 2025, v. 2025, p. 1, doi. 10.1155/bri/5538068

By:

Durmaz, Burak;
Oktay Çelebi, Latife Merve;
Çekin, Ayşe;
Ahadova, Ayshan;
Günel, Nur Selvi;
Yıldırım, Hatice Kalkan;
Özgönül, Ali Mert;
Yıldırım Sözmen, Eser;
Aziz, Aziz ur Rehman

Publication type:

Article

Doxorubicin Induces ER Calcium Release via Src in Rat Ovarian Follicles.

Published in:

Toxicological Sciences, 2019, v. 168, n. 1, p. 171, doi. 10.1093/toxsci/kfy284

By:

Aziz, Aziz Ur Rehman;
Geng, Chunyang;
Li, Wang;
Yu, Xiaohui;
Qin, Kai-Rong;
Wang, Hanqin;
Liu, Bo

Publication type:

Article

Regulation of insulin resistance and glucose metabolism by interaction of PIM kinases and insulin receptor substrates.

Published in:

Archives of Physiology & Biochemistry, 2020, v. 126, n. 2, p. 129, doi. 10.1080/13813455.2018.1498903

By:

Aziz, Aziz ur Rehman;
Farid, Sumbal;
Qin, Kairong;
Wang, Hanqin;
Liu, Bo

Publication type:

Article

Phytochemical Composition and Antioxidant Potential of Oven Heated and Microwave Treated Ginger (Zingiber officinale Roscoe).

Published in:

Free Radicals & Antioxidants, 2018, v. 8, n. 2, p. 89, doi. 10.5530/fra.2018.2.14

By:

Nawaz, Haq;
Shad, Muhammad Aslam;
Aziz, Aziz ur Rehman;
Muntaha, Sidra Tul;
Muzaffar, Saima

Publication type:

Article

Epidemiological and hematological investigation of dengue virus infection.

Published in:

Microbiology & Immunology, 2022, v. 66, n. 9, p. 426, doi. 10.1111/1348-0421.13018

By:

Anwar, Faheem;
Ullah, Sami;
Aziz, Aziz ur Rehman;
Rehman, Abid Ur;
Khan, Jawad;
Tayyab, Muhammad;
Haq, Ihteshamul;
Mahmood, Muhammad Tariq

Publication type:

Article