scholarly journals Syndromes Hidden within the 16p11.2 Deletion Region

2018 ◽  
Vol 9 (4) ◽  
pp. 171-174 ◽  
Author(s):  
Martin Poot
Keyword(s):  
Deletion Region

A Mouse Single-Copy Gene,Gtf2i,the Homolog of HumanGTF2I,That Is Duplicated in the Williams–Beuren Syndrome Deletion Region

Genomics ◽  
1998 ◽  
Vol 48 (2) ◽  
pp. 163-170 ◽  
Author(s):  
Yu-Ker Wang ◽  
Luis A. Pérez-Jurado ◽  
Uta Francke
Keyword(s):  
Single Copy ◽  
Single Copy Gene ◽  
Deletion Region ◽  
Copy Gene

Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

1998 ◽  
Vol 103 (5) ◽  
pp. 590-599 ◽  
Author(s):  
X. Meng ◽  
Xiaojun Lu ◽  
Zhizhong Li ◽  
Eric D. Green ◽  
Hillary Massa ◽  
...  
Keyword(s):  
Williams Syndrome ◽  
Physical Map ◽  
Novel Genes ◽  
Deletion Region ◽  
The Common ◽  
Common Deletion ◽  
Identification And Characterization

Characterization of the D8 gene which locates to 3p21, the common deletion region in lung cancer

1992 ◽  
Vol 63 (2) ◽  
pp. 180
Author(s):  
Klaas Kok ◽  
Peter Terpstra ◽  
Anke van den Berg ◽  
Dorothy L. Buchhagen ◽  
Robert Hofstra ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Deletion Region ◽  
The Common ◽  
Common Deletion

Whole-exome sequencing reveals potential germline and somatic mutations in 60 malignant ovarian germ cell tumors

2021 ◽  
Author(s):  
Juan Chen ◽  
Yan Li ◽  
Jianlei Wu ◽  
Yakun Liu ◽  
Shan Kang
Keyword(s):  
Germ Cell ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Peripheral Blood ◽  
Copy Number ◽  
Somatic Mutations ◽  
Germ Cell Tumors ◽  
Germline Mutations ◽  
Deletion Region ◽  
Whole Exome

Abstract Background Malignant ovarian germ cell tumors (MOGCTs) are rare and heterogeneous ovary tumors. We aimed to identify potential germline mutations and somatic mutations in MOGCTs by whole-exome sequencing. Methods The peripheral blood and tumor samples from these patients were used to identify germline mutations and somatic mutations, respectively. For those genes corresponding to copy number alterations (CNA) deletion and duplication region, functional annotation of was performed. Immunohistochemistry was performed to evaluate the expression of mutated genes corresponding to CNA deletion region. Results In peripheral blood, copy number loss and gain were mostly found in yolk sac tumors (YST). Moreover, POU5F1 was the most significant mutated gene with mutation frequency > 10% in both CNA deletion and duplication region. In addition, strong cytoplasm staining of POU5F1 (corresponding to CNA deletion region) was found in 2 YST and nuclear staining in 2 dysgerminomas (DG) tumor samples. Genes corresponding to CNA deletion region were significantly enriched in the signaling pathway of regulating pluripotency of stem cells. In addition, genes corresponding to CNA duplication region were significantly enriched in the signaling pathways of RIG-I-like receptor, Toll-like receptor, NF-kappa B and Jak–STAT. KRT4, RPL14, PCSK6, PABPC3 and SARM1 mutations were detected in both peripheral blood and tumor samples. Conclusions Identification of potential germline mutations and somatic mutations in MOGCTs may provide a new field in understanding the genetic feature of the rare biological tumor type in the ovary.

scholarly journals Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

2014 ◽  
Vol 17 (6) ◽  
pp. 460-466 ◽  
Author(s):  
Nina De Rocker ◽  
Sarah Vergult ◽  
David Koolen ◽  
Eva Jacobs ◽  
Alexander Hoischen ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Deletion Region

A 1-Mb Bacterial Clone Contig Spanning the Endometrial Cancer Deletion Region at 1p32–p33

Genomics ◽  
1999 ◽  
Vol 57 (1) ◽  
pp. 62-69 ◽  
Author(s):  
Martin F. Arlt ◽  
Muhua Li ◽  
Thomas J. Herzog ◽  
Paul J. Goodfellow
Keyword(s):  
Endometrial Cancer ◽  
Deletion Region ◽  
Bacterial Clone

scholarly journals Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

2011 ◽  
Vol 20 (2) ◽  
pp. 176-179 ◽  
Author(s):  
Sandesh C Sreenath Nagamani ◽  
Ayelet Erez ◽  
Carolyn Bay ◽  
Anjana Pettigrew ◽  
Seema R Lalani ◽  
...  
Keyword(s):  
Deletion Region

Isolation of genes from the rhabdoid tumor deletion region in chromosome band 22q11.2

Gene ◽  
2000 ◽  
Vol 241 (1) ◽  
pp. 133-141 ◽  
Author(s):  
Jun-Ying Zhou ◽  
Benjamin Fogelgren ◽  
Zhili Wang ◽  
Bruce A. Roe ◽  
Jaclyn A. Biegel
Keyword(s):  
Rhabdoid Tumor ◽  
Chromosome Band ◽  
Deletion Region

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders

2018 ◽  
Vol 61 (5) ◽  
pp. 248-252 ◽  
Author(s):  
Orazio Palumbo ◽  
Maria Accadia ◽  
Pietro Palumbo ◽  
Maria Pia Leone ◽  
Antonio Scorrano ◽  
...  
Keyword(s):  
Developmental Disorders ◽  
Deletion Region
Sign in / Sign up

Export Citation Format

Share Document