Results 211 to 220 of about 1,703,111 (346)

Molecular Mechanisms of CLCN5 Missense Mutations in Dent Disease Type 1: A Comprehensive Computational Analysis and Clinical Correlations in a Chinese Cohort. [PDF]

J Cell Mol Med
Wu C, Zhang Y, Chen Z, Fu H, Du Z, Chen L, Wang G, Mao J, Hu L.   +8 more
europepmc   +1 more source

”Not always the magic bullet”—Insufficient seizure control by ketogenic dietary therapies in Glut1 Deficiency Syndrome

Epilepsia Open, EarlyView.
Abstract Objective Ketogenic dietary therapies (KDTs) are the treatment of choice for Glut1 Deficiency Syndrome (Glut1DS), providing dietary ketones as an alternative fuel to the brain and effectively controlling seizures. Recent evidence indicates insufficient seizure control in Glut1DS patients despite adequate KDT and ketosis.
Joerg Klepper, Eva Runkel, Lucia Kiesel
wiley   +1 more source

Hemidesmosome Mutations Contribute to the Onset and Severity of Acquired Autoimmune Bullous Diseases. [PDF]

MedComm (2020)
Cao S, Wang T, Lv C, Ma S, Yu G, Xia Q, Liu T, Yu Y, Sun L, Pei X, Zhao Q, Wang Z, Wang C, Liu Y, Chen S, Wang J, Zhou G, Liu H, Sun Y, Zhang F.   +19 more
europepmc   +1 more source

Novel SOX17 frameshift mutations in endometrial cancer are functionally distinct from recurrent missense mutations. [PDF]

, 2017
Cohn, David E, Goodfellow, Paul J, Kurita, Takeshi, Miranda, Mario A, Mutch, David G, O\u27Hern, Matthew J, Sapp, Caroline E, Serna, Vanida A, Walker, Christopher J   +8 more
core   +1 more source

AKT, ATR, and Notch Inhibitors Radiosensitize a Preclinical Model of Adenoid Cystic Carcinoma

Head &Neck, EarlyView.
ABSTRACT Background Adenoid Cystic Carcinoma (ACC) is a rare and lethal type of head and neck cancer. Standard therapy involves surgery followed by radiation therapy. The majority of ACC has MYB overexpression and MYB‐NFIB gene fusions, while Notch mutations are associated with aggressive behavior.
Shivani Thoidingjam, Sushmitha Sriramulu, Asya Haider Muratoglu, Stephen Brown, Oudai Hassan, Benjamin Movsas, Haythem Ali, Steven Chang, Patrick Ha, Farzan Siddiqui, Shyam Nyati   +10 more
wiley   +1 more source

A report of novel inactivating missense mutations of BRCA1 detected in patients with acute myeloid leukemia. [PDF]

J Med Case Rep
Ejaz S, Raashid A, Hameed Y, Abdullah I, Imtiaz N, Iqbal M, Khurshid M, Malik WN.   +7 more
europepmc   +1 more source

Myocardin's Missense Mutation

Journal of Biological Chemistry, 2008
openaire   +1 more source

Metachronous triple primary malignancies: a case report of NGS-guided multidisciplinary management and literature review. [PDF]

Front Oncol
Li X, Zhang L, Wang X, Lv J, Liu C, Zhang S, Li X, Song J, Qiu W, Zhao S.   +9 more
europepmc   +1 more source

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

Human Mutation, 2011
S. Hicks, D. Wheeler, S. Plon, M. Kimmel
semanticscholar   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source