Results 91 to 100 of about 2,890 (187)

Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies [PDF]

, 2023
Shivangi Attri, Moien Rasheed Lone, Amit Katiyar, Vikas Sharma, Vinay Kumar, Chaitenya Verma, Suresh Kumar Gahlawat   +6 more
openalex   +1 more source

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles [PDF]

, 2005
Byoung Joon Kim, Chang‐Seok Ki, Jong‐Won Kim, Duk Hyun Sung, Young‐Chul Choi, Seung Hyun Kim   +5 more
openalex   +1 more source

Cortical and Striatal Functional Connectivity in Juvenile-Onset Huntington’s Disease

Brain Sciences
Background: Huntington’s disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the HTT gene, with a rare juvenile-onset form (JoHD) marked by early, rigid motor symptoms.
Amy Barry, Peg C. Nopoulos
doaj   +1 more source

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods

Scientific Reports
Hereditary neuromuscular disorders (NMDs) are clinically and genetically heterogeneous, with variable severity and onset from birth to adulthood. This study retrospectively analyzes genetic findings in 2009 Iranian individuals with suspected NMDs over 11
Negar Molaei, Parnian Alagha, Ali Khanbazi, Maryam Beheshtian, Fatemeh Ahangari, Shima Dehdahsi, Mahsa Fadaee, Mehri Ashki, Zhila Ghaderi, Zohreh Elahi, Raheleh Vazehan, Elham Parsimehr, Maryam Mozaffarpour Nouri, Parishad Saei, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Ayda Abolhassani, Fariba Afroozan, Hilda Yazdan, Masoumeh Akbari Kelishomi, Maryam Azad, Farshid Parvini, Seyed Mehrdad Kassaee, Mahtab Ramezani, Fariba Zemorshidi, Houman Salimipour, Siamak Abdi, MohammadKazem Bakhshandeh, Afshin Fayyazi, Gholamreza Zamani, Mahmoud Reza Ashrafi, Payman Jamali, Payam Sarraf, Ali Asghar Okhovat, Bahram Haghi Ashtiani, Farzad Fatehi, Parvaneh Karimzadeh, Shahriar Nafissi, Kimia Kahrizi, Ariana Kariminejad, Hossein Najmabadi   +41 more
doaj   +1 more source

The BET PROTAC inhibitor GNE-987 displays anti-tumor effects by targeting super-enhancers regulated gene in osteosarcoma [PDF]

Di Wu, Hongli Yin, Chun Yang, Zi-Mu Zhang, Fang Fang, Jianwei Wang, Xiaolu Li, Yi Xie, Xiaohan Hu, Ran Zhuo, Yanling Chen, Juanjuan Yu, Tiandan Li, Gen Li, Jian Pan   +14 more
openalex   +1 more source

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) [PDF]

, 2002
Tomohiko Kayashima, Hidenori Matsuo, Akira Satoh, Tohru Ohta, Koh-ichiro Yoshiura, Naomichi Matsumoto, Y. Nakane, Norio Niikawa, Tatsuya Kishino   +8 more
openalex   +1 more source

PO03 | Enlarged platelets with reduced GP IB/IX can indicate disorders other than Bernard-Soulier syndrome

Bleeding, Thrombosis and Vascular Biology
Background and Aims: Evaluation of platelet morphology is a cornerstone of the diagnostic work-up of patients with suspected inherited platelet disorders (IPD).
doaj   +1 more source

Upregulation of Hallmark Muscle Genes Protects Gne^M743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype

, 2020
Hadar Benyamini, Yehuda Kling, L. Yakovlev, Michal Becker‐Cohen, Yuval Nevo, Sharona Elgavish, Avi Harazi, Zohar Argov, Ilan Sela, Stella Mitrani‐Rosenbaum   +9 more
openalex   +2 more sources

Additional file 2 of GNE: a deep learning framework for gene network inference by aggregating biological information

, 2019
Kishan KC, Rui Li, Feng Cui, Qi Yu, Anne R. Haake   +4 more
openalex   +1 more source

Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies. [PDF]

PLoS One
Boonsri P, Yamutai S, Tanutit P, Sattayapornpipat J, Charalsawadi C, Koonalintip P, Sathirapanya P, Setthawatcharawanich S, Leelawattana R, Korathanakhun P.   +9 more
europepmc   +1 more source