scholarly journals Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients

2012 ◽  
pp. 55-64 ◽  
Author(s):  
Mei-Ying Liu ◽  
Tze-Tze Liu ◽  
Yang-Ling Yang ◽  
Ying-Chen Chang ◽  
Ya-Ling Fan ◽  
...  
Keyword(s):  
Methylmalonic Aciduria ◽  
Mutation Profile ◽  
Mut Gene

scholarly journals The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria

2019 ◽  
Vol 43 (4) ◽  
pp. 559-562
Author(s):  
Ailan Cheng ◽  
Rong Yao ◽  
Wenjun Cao ◽  
Hong Yu
Keyword(s):  
Methylmalonic Aciduria ◽  
1H Mrs

scholarly journals Mutation Profile of Aggressive Pheochromocytoma and Paraganglioma with Comparison of TCGA Data

Cancers ◽  
2021 ◽  
Vol 13 (10) ◽  
pp. 2389
Author(s):  
Yun Mi Choi ◽  
Jinyeong Lim ◽  
Min Ji Jeon ◽  
Yu-Mi Lee ◽  
Tae-Yon Sung ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
The Cancer Genome Atlas ◽  
Sequencing Analysis ◽  
Poor Overall Survival ◽  
Sdhb Mutation ◽  
Targeted Next Generation Sequencing ◽  
Mutation Profile ◽  
Next Generation Sequencing Analysis ◽  
Number Variation ◽  
Frequent Mutations

In pheochromocytoma and paraganglioma (PPGL), germline or somatic mutations in one of the known susceptibility genes are identified in up to 60% patients. However, the peculiar genetic events that drive the aggressive behavior including metastasis in PPGL are poorly understood. We performed targeted next-generation sequencing analysis to characterize the mutation profile in fifteen aggressive PPGL patients and compared accessible data of aggressive PPGLs from The Cancer Genome Atlas (TCGA) with findings of our cohort. A total of 115 germline and 34 somatic variants were identified with a median 0.58 per megabase tumor mutation burden in our cohort. The most frequent mutation was SDHB germline mutation (27%) and the second frequent mutations were somatic mutations for SETD2, NF1, and HRAS (13%, respectively). Patients were subtyped into three categories based on the kind of mutated genes: pseudohypoxia (n = 5), kinase (n = 5), and unknown (n = 5) group. In copy number variation analysis, deletion of chromosome arm 1p harboring SDHB gene was the most frequently observed. In our cohort, SDHB mutation and pseudohypoxia subtype were significantly associated with poor overall survival. In conclusion, subtyping of mutation profile can be helpful in aggressive PPGL patients with heterogeneous prognosis to make relevant follow-up plan and achieve proper treatment.

scholarly journals Mutation Profile of Resected EGFR ‐Mutated Lung Adenocarcinoma by Next‐Generation Sequencing

2019 ◽  
Vol 24 (10) ◽  
pp. 1368-1374 ◽  
Author(s):  
Ze‐Rui Zhao ◽  
Yao‐Bin Lin ◽  
Calvin S.H. Ng ◽  
Rong Zhang ◽  
Xue Wu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Lung Adenocarcinoma ◽  
Next Generation ◽  
Mutation Profile ◽  
Egfr Mutated ◽  
Generation Sequencing

scholarly journals Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

2019 ◽  
Vol 45 (1) ◽  
Author(s):  
Elena Manara ◽  
Stefano Paolacci ◽  
Fabiana D’Esposito ◽  
Andi Abeshi ◽  
Lucia Ziccardi ◽  
...  
Keyword(s):  
Bardet Biedl Syndrome ◽  
Italian Study ◽  
Mutation Profile

In vitro “responsive” methylmalonic aciduria: A new variant

1974 ◽  
Vol 84 (6) ◽  
pp. 911-912
Author(s):  
C. Kaye ◽  
G. Morrow ◽  
H. Nadler
Keyword(s):  
Methylmalonic Aciduria ◽  
New Variant

Hepatoblastoma in a patient with methylmalonic aciduria

2015 ◽  
Vol 167 (3) ◽  
pp. 635-638 ◽  
Author(s):  
Randall Chan ◽  
Leo Mascarenhas ◽  
Richard G Boles ◽  
Nanda Kerkar ◽  
Yuri Genyk ◽  
...  
Keyword(s):  
Methylmalonic Aciduria

scholarly journals Concurrent Oncogene Mutation Profile in Chinese Patients With Stage Ib Lung Adenocarcinoma

Medicine ◽  
2014 ◽  
Vol 93 (29) ◽  
pp. e296 ◽  
Author(s):  
Ying-Sheng Wen ◽  
Ling Cai ◽  
Xue-wen Zhang ◽  
Jian-fei Zhu ◽  
Zi-chen Zhang ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Chinese Patients ◽  
Stage Ib ◽  
Mutation Profile

scholarly journals Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

2002 ◽  
Vol 20 (3) ◽  
pp. 234-235 ◽  
Author(s):  
Mirella Filocamo ◽  
Raffaella Mazzotti ◽  
Marina Stroppiano ◽  
Marco Seri ◽  
Fiorina Giona ◽  
...  
Keyword(s):  
Mutation Profile ◽  
Glucocerebrosidase Gene

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria

Mitochondrion ◽  
2010 ◽  
Vol 10 (4) ◽  
pp. 335-341 ◽  
Author(s):  
Vassili Valayannopoulos ◽  
Coralie Haudry ◽  
Valérie Serre ◽  
Magalie Barth ◽  
Nathalie Boddaert ◽  
...  
Keyword(s):  
Methylmalonic Aciduria ◽  
Phenotypic Spectrum
Sign in / Sign up

Export Citation Format

Share Document