China
Africa
Explore chapters and articles related to this topic
Muscle Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Kourosh Rezania, Peter Pytel, Betty Soliven
Autosomal recessive disorder caused by the deficiency of glycogen branching enzyme. This enzyme catalyzes the transfer of a glucose string from one glycogen chain to another while creating a new branch. The gene is localized to chromosome 3.
Neurotrophic Action of VIP
Published in Sami I. Said, Proinflammatory and Antiinflammatory Peptides, 2020
Douglas E. Brenneman, Joanna M. Hill, Pierre Gressens, Illana Gozes
Interestingly, in a recent publication, Sreedharan and his colleagues (88) describe the structure, expression, and chromosomal localization of the VIP1 receptor gene. Their results localized the human gene to chromosome 3 (3p22), a region associated with small-cell lung cancer. Allele loss in the area 3p23-p21 has been linked to many types of cancer, including small-cell lung carcinoma, possibly due to the presence of a functional tumor-suppressor gene in the region (89,90). Sreedharan et al. (48) have demonstrated a high level of expression of the human VIP1 receptor gene in lung tissue and suggested analysis of this gene-associated polymorphism for the acquisition of further information on the role of VIP and its receptors in human cancer. The results of Sreedharan et al. indicate that VIP may suppress lung cancer proliferation through the VIP1 receptor. However, results by Usdin et al. (58) indicate that the hybrid antagonist, under certain conditions, does not recognize the VIP1 receptor, suggesting the involvement of another VIP receptor site in the tumor inhibition mediated by the hybrid antagonist, perhaps a PACAP-preferring receptor. Studies on other VIP receptor genes, as well as on PACAP receptor genes, are necessary to decipher the role of VIP in cancer propagation.
Renal Cell Cancer
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
Additional genes have now been implicated, both ubiquitous and sub-clonal, many of them located on chromosome 3.8,9,14 The m-TOR pathway also drives cancer progression in some RCC cases.10,11
The role of toll-like receptors (TLRs) in pan-cancer
Published in Annals of Medicine, 2022
Runzhi Huang, Zehui Sun, Shuyuan Xian, Dianwen Song, Zhengyan Chang, Penghui Yan, Jie Zhang, Huabin Yin, Zixuan Zheng, Peng Hu, Zhenyu Li, Dan Huang, Yihan Liu, Chenyang Jiang, Man Li, Siqi Li, Tong Meng, Daoke Yang, Zongqiang Huang
TLR9's performance, which is likewise a critical component of innate and adaptive immunity, is particularly notable in the overall analysis results. This gene is located on chromosome 3 at positions 52,221,080–52,226,163 and 52,255,096–52,273,183. In contrast to TLR4 and TLR7, TLR9 forms both monomers and homodimers on the membrane and functions as a nucleotide-sensing TLR. Unmethylated cytidine-phosphate-guanosine (CpG) motifs (CpG ODNs), a TLR9 agonist, can stimulate antitumor immunity by activating the NF-κB pathway [5,62–64], and increase tumour cell death via cell cycle S phase arrest triggered by phosphorylated CHK2 [65–69]. Additionally, TLR9's identification of DNA factions assists in initiating T lymphocyte, B lymphocyte, and dendritic cell proliferation, activation, survival, and antibody production [68–71].
Abnormal chromosomes identification using chromosomal microarray
Published in Journal of Obstetrics and Gynaecology, 2022
Yunfang Shi, Xiaozhou Li, Duan Ju, Yan Li, Xiuling Zhang, Ying Zhang
A 34-year-old multipara at a gestational age of 18 weeks was referred to our prenatal diagnosis centre for foetal evaluation. Her first child was 3 years old with mental retardation, facial dysmorphism and developmental delay. She had a spontaneous abortion in the first trimester previously. Nuchal translucency (NT) measurement and first trimester screening were within normal limits. Amniocentesis was performed at a gestational age of 20 weeks and foetal karyotype was 46,XX,der(3), which showed an unbalanced karyotype with extra chromosomal material in the short arm of chromosome 3. SNP-array from the amniotic fluid was performed to further analyse the additional materials of unknown origin. Subsequent SNP-array identified a deletion of approximately 8.4 Mb in chromosome 3p26.3p26.1 and a duplication of 19.7 Mb in chromosome 5q34q35.3. The deletion region contained 14 OMIM genes including ITPR1. The duplication region encompasses 99 OMIM genes including NKX2-5, MSX2 and NSD1. Based on SNP-array findings, the foetal karyotype was unbalanced. The derivative chromosome 3 with loss of the segment 3p26.3pter and gain of 5q34qter replaced a normal chromosome 3 (Figure 1, Table 1).
ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome
Published in Pediatric Hematology and Oncology, 2019
Meghna Srinath, Emily Coberly, Kimberly Ebersol, Kirstin Binz, Katsiaryna Laziuk, William T. Gunning, Barbara Gruner, Richard Hammer, Bindu Kanathezhath Sathi
Repeat bone marrow aspirate and biopsy 15 months after initial examination found megaloblastic erythropoiesis and decreased iron stores without evidence of dysplasia or excess blasts (Figure 1 B2, C2, D2), and the immunostaining for Parvovirus B19 was negative. Flow cytometry demonstrated aberrant CD56 expression on granulocytes and monocytes. No dyserythropoietic features or inclusions were seen on electron microscopy. Whole exome oligonucleotide array revealed a region of homozygosity in chromosome 3 (3p12.2q11.2; 83,054,736–94,487,336; size 11.4Mb) which did not contain genes of clinical relevance to our case. Cytogenetics were negative for clonal abnormality and next-generation sequencing was negative for GATA1 mutation. OncoHeme next-generation Sequencing of bone marrow for Hematologic Malignancies (NGSHM) revealed a ZRSR2 point mutation on Chromosome X, with allele frequency of 100% (Figure 2). Testing for all other genetic forms of macrocytic anemia, including Orotic aciduria, was negative.