由 RE Ware 著作 · 1994 · 被引用 105 次 — Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematologic disorder with multiple and varied clinical manifestations. ... <看更多>
「piga mutation」的推薦目錄：
piga mutation 在 A novel PIGA mutation in a Taiwanese family with early-onset ... 的相關結果
Somatic PIGA mutation is responsible for deficiency of GPI-anchored proteins in paroxysmal nocturnal hemoglobinuria [3]. Johnston et al. ... <看更多>
piga mutation 在 PIGA - Wikipedia 的相關結果
Multiple Congenital Anomalies-Hypotonia-Seizures syndrome type 2 (MCAHS2), also known as PIGA-CDG or PIGA deficiency, has been shown to result from germline ... ... <看更多>
piga mutation 在 The genotypic and phenotypic spectrum of PIGA deficiency 的相關結果
Patients with PIGA germline mutations share key phenotypic features with patients carrying mutations in genes encoding various PIG family ... ... <看更多>
piga mutation 在 PIGA Gene - GeneCards | PIGA Protein | PIGA Antibody 的相關結果
PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A) is a Protein Coding gene. Diseases associated with PIGA include Multiple ... ... <看更多>
piga mutation 在 OMIM Entry - * 311770 - PHOSPHATIDYLINOSITOL GLYCAN ... 的相關結果
Analysis of the PIGA gene in the 1990s showed an insertion-duplication in exon 6, causing a frameshift. The mutation was the insertion of 2 adenines at position ... ... <看更多>
piga mutation 在 A Novel Mutation in PIGA Associated with Multiple Congenital ... 的相關結果
Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) is a rare disease caused by mutations in the X chromosomal PIGA gene. ... <看更多>
piga mutation 在 PIGA-congenital disorder of glycosylation (PIGA-CDG, also ... 的相關結果
PIGA -congenital disorder of glycosylation (PIGA-CDG, also known as phosphatidylinositol-glycan class A protein deficiency or Multiple Congenital Anomalies- ... ... <看更多>
piga mutation 在 A novel PIGA mutation in a Taiwanese family with early-onset ... 的相關結果
Somatic PIGA mutation is responsible for deficiency of GPI-anchored proteins in paroxysmal nocturnal hemoglobinuria [3]. Johnston et al. [2] were the first to. ... <看更多>
piga mutation 在 X inactivation and somatic cell selection rescue female mice ... 的相關結果
A somatic mutation in the X linked PIGA gene is responsible for the deficiency of glycosyl phosphatidylinositol (GPI)-anchored proteins on blood cells from ... ... <看更多>
piga mutation 在 Incidential Findings of Mutations in the PIGA Gene Are Highly ... 的相關結果
In the majority of cases, GPI deficiency is caused by somatic mutations in the PIGA gene. Presence of PNH clones is associated with acquired ... ... <看更多>
piga mutation 在 Mutational landscape and its clinical significance in ... - Nature 的相關結果
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder caused by mutation of the X-linked PIGA ... ... <看更多>
piga mutation 在 PIGA - Phosphatidylinositol N-acetylglucosaminyltransferase ... 的相關結果
"Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene." Bessler M., Mason P.J., Hilmen P., Miyata T., Yamada N., Takeda J ... ... <看更多>
piga mutation 在 What causes paroxysmal nocturnal hemoglobinuria (PNH)? 的相關結果
For some time, paroxysmal nocturnal hemoglobinuria (PNH) has been known to result from somatic mutations in the PIGA gene, which encodes ... ... <看更多>
piga mutation 在 Pathogenesis of paroxysmal nocturnal hemoglobinuria 的相關結果
The PIGA gene is located on the X chromosome. Therefore, a single "hit" (ie, a mutation in only one allele of the gene) will generate a PNH ... ... <看更多>
piga mutation 在 Identification of acquired PIGA mutations and additional ... 的相關結果
Genomic DNA of 85 PNH patients was analyzed by a 114-gene NGS panel. Results. Mutational analysis of PIGA identified 124 mutations in 92% PNH ... ... <看更多>
piga mutation 在 PIGA mutation profile in patients with PNH - ResearchGate 的相關結果
Download scientific diagram | PIGA mutation profile in patients with PNH from publication: Clonal Cell Proliferation in Paroxysmal Nocturnal Hemoglobinuria: ... ... <看更多>
piga mutation 在 Rare lethal disorder traced to variant of the PIGA gene on the ... 的相關結果
When the newly discovered PIGA gene mutation passes from parents through the lone X chromosome of a male child, all of the boy's cells are ... ... <看更多>
piga mutation 在 生殖系<i class="italic">PIGA</i>基因突变的临床表型及基因 ... 的相關結果
生殖系PIGA基因突变患儿10例的临床资料. Table 1. Clinical data of 10 children with PIGA gene mutation in reproductive system. ... <看更多>
piga mutation 在 Wintrobe's Clinical Hematology - 第 1 卷 - 第 1003 頁 - Google 圖書結果 的相關結果
As males have a single X chromosome , any functionally significant mutation affecting PIGA is expressed . Females are functionally haploid due to X ... ... <看更多>
piga mutation 在 A novel PIGA mutation in a Taiwanese family with early-onset ... 的相關結果
A novel PIGA mutation in a Taiwanese family with early-onset epileptic encephalopathy. Wei De Lin, I. Ching Chou, Fuu Jen Tsai, Syuan Yu Hong. ... <看更多>
piga mutation 在 A hypomorphic PIGA gene mutation causes severe defects in ... 的相關結果
The remaining genes involved in GPI anchor biosynthesis are located on autosomes. Until the last decade, only somatic PIGA mutations had been ... ... <看更多>
piga mutation 在 The impact of missense mutation in PIGA associated to ... 的相關結果
The deficiency of GPI-anchored proteins has been associated with the somatic mutations in phosphatidylinositol glycan class A. (PIGA). However, the mutations ... ... <看更多>
piga mutation 在 Early-onset epileptic encephalopathy related to germline PIGA ... 的相關結果
Among these genes, germline mutations in Phosphatidyl Inositol Glycan A (PIGA) gene were first reported in 2012. Located on Xp22.2, PIGA is ... ... <看更多>
piga mutation 在 PIGA - Orphanet 的相關結果
PIGA - phosphatidylinositol glycan anchor biosynthesis class A ... Disease-causing germline mutation(s) in Ferro-cerebro-cutaneous syndrome ORPHA:397922 ... ... <看更多>
piga mutation 在 Assay to detect the PIGA gene mutation as a novel blood ... 的相關結果
The PIGA gene mutation assay is a novel way of detecting DNA damage. With this assay, we indirectly investigated mutations to the PIGA gene ... ... <看更多>
piga mutation 在 PIGA Gene - Ma'ayan Laboratory - Computational Systems ... 的相關結果
cell lines with PIGA gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. CTD Gene-Chemical Interactions, chemicals interacting with PIGA ... ... <看更多>
piga mutation 在 Does Chemotherapy Train the Mutation of the Pig-A Gene ... 的相關結果
Does Chemotherapy Train the Mutation of the Pig-A Gene? (PIGA) ; Breast Cancer Female, Biological: Blood collection and Micronuclei assay on ... ... <看更多>
piga mutation 在 Piga<tm2Tak> Targeted Allele Detail MGI Mouse (MGI:3652879) 的相關結果
Mutation description. Allele Type: Targeted (Null/knockout). Mutations: Insertion, Intragenic deletion. ... <看更多>
piga mutation 在 Evaluation of PIGA Mutations and T-cell Receptor Clonality 的相關結果
We investigated PNH clonal proliferation in the three cell lineages—granulocytes, T lymphocytes, and red blood cells (RBCs)—by analyzing PIGA gene mutations ... ... <看更多>
piga mutation 在 Nathan and Oski's Hematology and Oncology of Infancy and ... 的相關結果
Analysis of PIGA has revealed that the same mutation can be identified in ... the hematopoietic stem cell.22,63 More than 150 PIGA mutations have been ... ... <看更多>
piga mutation 在 High Mutation Frequency of the PIGA Gene in T Cells Results ... 的相關結果
In turn, loss of GPI anchor expression resulted from a highly polyclonal mutational landscape in the PIGA gene, one of the genes essential for ... ... <看更多>
piga mutation 在 Piga | Sigma-Aldrich 的相關結果
A somatic mutation in the X-linked phosphatidylinositol glycan class A (PIGA) gene causes the loss of glycosyl phosphatidylinositol (GPI)-linked proteins on ... ... <看更多>
piga mutation 在 Paroxysmal nocturnal hemoglobinuria without GPI-anchor ... 的相關結果
ic PIGA mutation (1). The gene product of. PIGA is required for the biosynthesis of gly- cosylphosphatidylinositol (GPI) anchors; thus, PIGA mutations lead ... ... <看更多>
piga mutation 在 PIGA - Genomics England PanelApp 的相關結果
Green PIGA in Congenital disorders of glycosylation ... review, X-LINKED: hemizygous mutation in males, biallelic mutations in females ... ... <看更多>
piga mutation 在 Application of counter-selectable marker PIGA in engineering ... 的相關結果
del mutations in genes as well as targeted gene dele- tion and replacement. Here, we describe paired gRNA deletions along the PIGA locus on ... ... <看更多>
piga mutation 在 Mutation overview page PIGA - p.C183Y ( Substitution 的相關結果
COSM120034; Gene name: PIGA; AA mutation. p.C183Y (Substitution - Missense, position 183, C➞Y). CDS mutation. c.548G>A (Substitution, position 548, G➞A). ... <看更多>
piga mutation 在 通过阵发性夜间血红蛋白尿症的下一代测序鉴定获得的PIGA ... 的相關結果
Paroxysmal Nocturnal Hemoglobinuria (PNH) is an acquired clonal disease of hematopoietic stem cells. It is caused by somatic mutation of the ... ... <看更多>
piga mutation 在 Evaluation of PIGA Mutations and T-cell Receptor Clonality 的相關結果
PIGA gene mutations were analyzed in granulocytes and T lymphocytes by Sanger sequenc- ... Key Words: Paroxysmal nocturnal hemoglobinuria, PIGA mutation, ... ... <看更多>
piga mutation 在 PIGA - phosphatidylinositol glycan anchor... - WikiGenes 的相關結果
A somatic mutation in the X-linked phosphatidylinositol glycan class A (PIGA) gene causes the loss of glycosyl phosphatidylinositol (GPI)-linked proteins on ... ... <看更多>
piga mutation 在 Donor-PIGA-NeoR (Plasmid #153549) - Addgene 的相關結果
Plasmid Donor-PIGA-NeoR from Dr. Hiroyuki Konishi's lab contains the insert mutant PIGA (a 1991-bp fragment from intron 5 and exon 6 with a 3-bp mutation in ... ... <看更多>
piga mutation 在 Role of acquired PIGA gene mutations in normal and ... 的相關結果
... (GPI)-linked molecules on cell membrane. However, PIGA gene mutation is necessary but not sufficient for PNH development; in. ... <看更多>
piga mutation 在 Case Report: Paroxysmal nocturnal hemoglobinuria in... 的相關結果
PNH is associated with one or more clones of cells that lack complement inhibition due to loss of function somatic mutations in the PIGA gene. PIGA encodes the ... ... <看更多>
piga mutation 在 Paroxysmal Nocturnal Hemoglobinuria: From Bench to Bedside 的相關結果
PNH is generally caused by somatic mutation of the X-linked PIGA gene in one or some hematopoietic stem cells. Recently, an atypical case of PNH caused by ... ... <看更多>
piga mutation 在 Genetic Testing - Paroxysmal nocturnal hemoglobinuria ... 的相關結果
This process is due to mutations in the gene PIGA, located on the short arm of the X chromosome (Xp22.1). This gene encodes a protein called ... ... <看更多>
piga mutation 在 Somatic Mutations and Clonal Hematopoiesis in Aplastic ... 的相關結果
Somatic mutations in myeloid cancer candidate genes were present in one third of ... PIGA-mutated clones decreased or remained stable. ... <看更多>
piga mutation 在 The in vivo erythrocyte Pig-a gene mutation assay Part 1 - OECD 的相關結果
TG 488: the transgenic somatic and germ cell gene mutation assays . ... RJ Albertini (2015) Both PIGA and PIGL mutations cause GPI-a. ... <看更多>
piga mutation 在 impact of missense mutation in PIGA associated ... - Agris (FAO) 的相關結果
impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A ... ... <看更多>
piga mutation 在 Recurrent aseptic meningitis with PIGT mutations - BMJ Case ... 的相關結果
All the symptoms disappeared on administering eculizumab, an anti-C5 antibody. We did not detect mutation in PIGA, which is regarded as the cause of PNH. ... <看更多>
piga mutation 在 A recurrent germline mutation in the PIGA gene causes ... 的相關結果
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. American Journal of Medical Genetics. Part A, 170(2): ... ... <看更多>
piga mutation 在 A Neonate with a PIGA c.1234C>T Mutation as a Novel Cause ... 的相關結果
A Neonate with a PIGA c.1234C>T Mutation as a Novel Cause of Neonatal Early Infantile Epileptic Encephalopathy. ... <看更多>
piga mutation 在 What You Need to Know About the PIGA Gene in PNH 的相關結果
The PIGA gene difference is a somatic mutation. This means it's not inherited. The gene change happens spontaneously during one's life. ... <看更多>
piga mutation 在 In Vivo Pig-a Assay (MutaFlow™) - Charles River Laboratories 的相關結果
This assay is used for scoring the frequency of mutant phenotype erythrocytes (RBCs) and mutant phenotype immature erythrocytes (reticulocytes, ... ... <看更多>
piga mutation 在 A Novel Mutation in PIGA Associated with Multiple Congenital ... 的相關結果
Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) is a rare disease caused by mutations in the X chromosomal PIGA gene. Clinically it is ... ... <看更多>
piga mutation 在 Epilepsy caused by PIGA mutations: new patients published. 的相關結果
De novo mutations in the PIGA gene, involved in the synthesis of GPI (glycosylphosphatidylinositol), cause a severe form of early onset ... ... <看更多>
piga mutation 在 Dr. Georgie Ryland - EHA Library 的相關結果
HIGH FREQUENCY ASXL1 MUTATIONS AND MULTIPLE SUBCLONAL PIGA MUTATIONS ARE OBSERVED IN CELLULAR AND CELL-FREE DNA IN PAROXYSMAL NOCTURNAL ... ... <看更多>
piga mutation 在 EARLY-ONSET-EPILEPTIC-ENCEPHALOPATHIES-CAUSED ... 的相關結果
Recently, a PIGA germline mutation involved in the first step of the glycosylphosphatidylinositol (GPI) biosynthesis and its somatic mutation ... ... <看更多>
piga mutation 在 PIGA Mutations Can Mimic Neonatal Hemochromatosis - AAP ... 的相關結果
Whole-exome sequencing revealed a variant in the phosphatidylinositol glycan biosynthesis class A protein (PIGA) gene. Germ-line PIGA mutations ... ... <看更多>
piga mutation 在 Paroxysmal nocturnal hemoglobinuria revisited - De Gruyter 的相關結果
The driver for the clonal dominance of the PIGA-mutated hematopoiesis is still not clear. Recently, data about coexisting mutations in cancer ... ... <看更多>
piga mutation 在 Nathan and Oski's Hematology of Infancy and Childhood 的相關結果
Do PIGA Mutations Cause Paroxysmal Nocturnal Hemoglobinuria? The pathophysiology of the various clinical manifestations of PNH presumably reflects the ... ... <看更多>
piga mutation 在 Central Nervous System Diseases: New Insights for the ... 的相關結果
Although somatic PIGA mutations have been identified in many PNH patients, ... identified a single nonsense PIGA mutation, c.1234C >T, which predicts p. ... <看更多>
piga mutation 在 Evaluation of PIGA Mutations and T-cell Receptor Clonality 的相關結果
PIGA gene mutations were analyzed in granulocytes and T ... The PIGA mutation burden of T lymphocytes was higher in patients with clonal ... ... <看更多>
piga mutation 在 Assay to detect the PIGA gene mutation as a novel - ProQuest 的相關結果
Assay to detect the PIGA gene mutation as a novel blood-based biomarker in cancer. Haboubi, Hasan; Williams, Lisa; Manson, James; Bodger, ... ... <看更多>
piga mutation 在 PIGA, GPI anchor biosynthesis (IPR013234) - InterPro entry 的相關結果
The effect of GPI-anchor deficiency on apoptosis in mice carrying a Piga gene mutation in hematopoietic cells. Kulkarni S, Bessler M. J. Leukoc. Biol. ... <看更多>
piga mutation 在 PIGA mutations cause early-onset epileptic ... - Neurology 的相關結果
Conclusions: Our study confirmed that PIGA mutations are one genetic cause of EOEE, suggesting that GPI-anchor deficiencies may be an ... ... <看更多>
piga mutation 在 HGMD® gene result 的相關結果
Gene symbol, Chromosomal location, Gene name, Mutation total, Log in. PIGA, Xp22.1, Phosphatidylinositol glycan anchor biosynthesis class A, 26 ... ... <看更多>
piga mutation 在 Insights Into the Emergence of Paroxysmal Nocturnal ... 的相關結果
In PNH patients, PIGA-mutant, GPI (-) hematopoietic cells clonally ... A single inactivating PIGA mutation is sufficient to disrupt GPI ... ... <看更多>
piga mutation 在 [PIGA (Phosphatidyl inositol glycan-Class A) mutation analysis] 的相關結果
RECORD تصريح: لا أحد CITATION: [ PIGA (فسفاتيديل اينوزيتول غليكان الفئة- A) تحليل الطفرة] سيول: لجنة الصحة نيو تقييم التكنولوجيا (CNHTA). ... <看更多>
piga mutation 在 The many faces of PIGA – from paroxysmal nocturnal ... 的相關結果
Acquired mutations in PIGA are known to cause paroxysmal nocturnal hemoglobinuria (PNH), an anemia due to destruction of red blood cells. ... <看更多>
piga mutation 在 PIGA mutations cause early-onset ... - Semantic Scholar 的相關結果
This study confirmed that PIGA mutations are one genetic cause of EOEE, suggesting that GPI-anchor deficiencies may be an underlying cause ... ... <看更多>
piga mutation 在 A new rare disease project: modeling PIGA mutations - Chow ... 的相關結果
I met Ann and Steve Nguyen and their son, Emmett, during this visit. Emmett is a sweet boy who was born with a mutation in the PIGA gene (follow ... ... <看更多>
piga mutation 在 The phenotype of a germline mutation in PIGA: the gene somatically ... 的相關結果
Although somatic PIGA mutations have been identified in many PNH patients, it has been proposed that germline mutations are lethal. ... <看更多>
piga mutation 在 New Whiteboard Video! - PIGA Congenital Disorder of ... 的相關結果
PIGA -CDG.org was created to help parents, caregivers and medical professionals learn more about this rare genetic mutation, and as a place ... ... <看更多>
piga mutation 在 Hemomancer 5e. That one looks like it's waving. Let me take a ... 的相關結果
125) Ghostbane Blood Hunter (Mercer) Lycan Blood Hunter (Mercer) Mutant Blood Hunter (Mercer) Profane Blood . [Alteration of Middle English nigromancie, ... ... <看更多>
piga mutation 在 The Phenotype of a Germline Mutation in PIGA - CORE 的相關結果
Although somatic PIGA mutations have been identified in many PNH patients, it has been proposed that germline mutations are lethal. We report a ... ... <看更多>
piga mutation 在 C9052 Injection, ravulizumab-cwvz, 10 mg (ultomiris) J3590 的相關結果
20 While a number of different somatic mutations on PIGA have Feb 01, 2022 · Authorization process for these medications. ... <看更多>
piga mutation 在 PIGA基因详情-基因数据库-基因云馆 的相關結果
PIGA 的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为此基因编码N-乙酰磷脂酰肌 ... has been shown to result from mutations in this gene. ... <看更多>
piga mutation 在 Obinutuzumab Plus Lenalidomide In Advanced Follicular ... 的相關結果
Targeting the PBX1-FOXM1 axis in myeloma, SF3B1 mutations in MDS, ... Cell therapy options for chemo-sensitive DLBCL, PIGA mutations in a novel subtype of ... ... <看更多>
piga mutation 在 PIGA gene: MedlinePlus Genetics 的相關結果
The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A (shortened to PIG-A). ... <看更多>