scholarly journals Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation

2019 ◽  
Vol 7 (6) ◽  
Author(s):  
Mellody I. Cooiman ◽  
Lotte Kleinendorst ◽  
Bert Zwaag ◽  
Ignace M. C. Janssen ◽  
Frits J. Berends ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gene Mutation ◽  
Pten Gene ◽  
Bariatric Clinic

Analysis of the PTEN gene mutation in polyposis syndromes and sporadic gastrointestinal tumors in Japanese patients

2000 ◽  
Vol 43 (Sup 10) ◽  
pp. S29-S33 ◽  
Author(s):  
Kenichi Negoro ◽  
Seiichi Takahashi ◽  
Yoshitaka Kinouchi ◽  
Sho Takagi ◽  
Nobuo Hiwatashi ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Japanese Patients ◽  
Gastrointestinal Tumors ◽  
Pten Gene ◽  
Polyposis Syndromes

scholarly journals Identification of GBA Gene Mutations in 19 Pakistani Unrelated Patients of Gaucher Disease

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4952-4952 ◽  
Author(s):  
Arshi Naz ◽  
Qurat Abedin ◽  
Shariq Ahmed ◽  
Saima Siddiqui ◽  
Tahir Shamsi
Keyword(s):  
Bone Marrow ◽  
Genetic Analysis ◽  
Gene Mutation ◽  
Gaucher Disease ◽  
Conflicts Of Interest ◽  
Demographic Data ◽  
White Blood Cells ◽  
Bone Marrow Morphology ◽  
Number Of Patients ◽  
Gba Gene

Abstract Introduction: Gaucher disease (GD) is one of the lysosomal storage diseases that is rare and inherited autosomal recessively. There is insufficiency of glucocerebrosidase enzyme that leads to the build up of un-degraded substrates in white blood cells causing anemia, hepatosplenomegaly and skeletal disease. This enzyme deficiency is linked with the defect of its gene (GBA) that codes for this enzyme. Initial diagnosis is made by the estimation of glucocerebrosidase level in blood and confirmed by genetic analysis of GBA gene. To identify the mutations of GBA gene in Pakistani patients with GD from different regions of Pakistan. Sampling & methodology: The sample and demographic data was collected in National Institute of Blood Disease and Bone marrow Transplantation after approval of IRB and written informed consent of patients. We collected total 19 blood samples, out of which 5 had Gaucher's disease, 10 samples were parents of the index cases and 4 were control. The methodology consisted of DNA extraction and quantification from peripheral blood. Genetic analysis of coding regions of GBA gene was done via gene amplification, gel electrophoresis and sequencing. Result: Mutation was found in two out of five families that makes the prevalence of GBA gene mutation 40%. These were diagnosed on reduced enzyme levels and found to have L444P (c.1448T>C) mutation in homozygous form in 10th exon of GBA gene. The parents of that patient carried the same mutation in one allele. Rest of the patients who were diagnosed on bone marrow morphology showed no mutation in GBA gene. Conclusion: Our results illustrate that GBA gene mutation was found in those patients who were diagnosed by the estimation of β-glucosidase enzyme levels rather than on bone marrow morphology. In our population, the mutation L444P was found, which is the most frequent gene mutation found in the world. Since this study is conducted in a small number of patients therefore it is recommended that large cohorts of patients should be evaluated in future for genetic mutations among Gaucher's patients in Pakistan Key words: Gaucher disease, storage disorder, GBA gene Disclosures No relevant conflicts of interest to declare.

scholarly journals Genetic analysis of a hemophilia B family with a novel F9 gene mutation

Medicine ◽  
2019 ◽  
Vol 98 (21) ◽  
pp. e15688 ◽  
Author(s):  
Xue Lv ◽  
Tao Li ◽  
Hao Li ◽  
Hong-yan Liu ◽  
Zhen Wang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gene Mutation ◽  
Hemophilia B

M163 ASYMPTOMATIC T LYMPHOPENIA IN A YOUNG ADULT WITH PTEN GENE MUTATION

2021 ◽  
Vol 127 (5) ◽  
pp. S97
Author(s):  
D. Hamilton ◽  
J. Benipal ◽  
H. Lehman
Keyword(s):  
Young Adult ◽  
Gene Mutation ◽  
Pten Gene

scholarly journals A 12-Year-Old Girl with Bilateral Coats Disease and ABCA4 Gene Mutation

2018 ◽  
Vol 9 (2) ◽  
pp. 375-380 ◽  
Author(s):  
Ali Osman Saatci ◽  
Ziya Ayhan ◽  
Aylin Yaman ◽  
Elcin Bora ◽  
Ayfer Ulgenalp ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gene Mutation ◽  
Laser Photocoagulation ◽  
Functional Result ◽  
Systemic Disease ◽  
Gene Mutations ◽  
Dexamethasone Implant ◽  
Single Session ◽  
Abca4 Gene ◽  
Coats Disease

A 12-year-old girl with bilateral stage 2B Coats disease was screened meticulously for a possible underlying systemic disease as she was female and the disease was bilateral. Full systemic workout turned out to be unremarkable. However, an ABCA4 gene mutation was found in the genetic analysis. NDP and TINF2 gene mutations were not present. She was successfully treated with a bilateral, single intravitreal injection of dexamethasone implant and a single session of indirect laser photocoagulation with a relatively good anatomic and functional result. To the best of our knowledge, the present case is the only reported case of Coats disease with an ABCA4 gene mutation.

PTEN gene mutation and high MIB-1 labeling index may contribute to dissemination in patients with glioblastoma

2004 ◽  
Vol 11 (1) ◽  
pp. 37-41 ◽  
Author(s):  
Hideaki Kato ◽  
Miki Fujimura ◽  
Toshihiro Kumabe ◽  
Chikashi Ishioka ◽  
Ryunosuke Kanamaru ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Labeling Index ◽  
Pten Gene ◽  
Mib 1

LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response

2014 ◽  
Vol 40 (3) ◽  
pp. 224-228 ◽  
Author(s):  
V. Chirico ◽  
V. Ferraù ◽  
I. Loddo ◽  
S. Briuglia ◽  
M. Amorini ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Treatment Response ◽  
Gene Mutation ◽  
Lmna Gene
Sign in / Sign up

Export Citation Format

Share Document