Relevant bibliographies by topics / P.R138Q

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Academic literature on the topic 'P.R138Q'

Author: Grafiati
Published: 5 June 2025
Last updated: 1 August 2025

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Journal articles on the topic "P.R138Q"

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ABDOUSS, Fatima, Mohamed AHAKOUD, Laila BOUGUENOUCH, Fatima Zohra SOUILMI, and Karim OULDIM. "p.R138Q and p.R229Q Screening In NPHS2 Gene in a Moroccan Cohort with Steroid Resistant Nephrotic Syndrome." International Journal of Multidisciplinary Research and Analysis 04, no. 11 (2021): 1589–82. https://doi.org/10.47191/ijmra/v4-i11-13.

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Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal-recessive form of nonsyndromic steroid-resistant nephrotic syndrome in both pediatric and adult patients. The p.R138Q (c.413G>A) mutation in exon 3 was the most prevalent mutation in European series. The p.R229Q (c.686G>A) variant in exon 5 is the first human variant discovered with a mutation-dependent pathogenicity. We aimed in this study to screen for the p.R138Q mutation and the p.R138Q variant in a Moroccan cohort with Steroid Resistant Nephrotic Syndrome.
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Pua, Jing Yit, Ang Lee, Vienna Zi Wei Khor, et al. "Development of a sensitive, specific and cost-effective T-ARMS PCR assay for the genotyping of R132H of IDH1 gene in glioma patients." Asian Journal of Medicine and Biomedicine 6, S1 (2022): 61–63. http://dx.doi.org/10.37231/ajmb.2022.6.s1.528.

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The discovery of isocitrate dehydrogenase isoform 1 (IDH1) mutation as a key molecular marker has resulted in a change in glial tumour classification [1]. IDH1 mutations are commonly in gliomas, particularly in low-grade gliomas and secondary glioblastoma [2]. IDH1 p.R132H (c.395G>A) accounted for more than 90% of the mutation in IDH1/2 mutation and had a significant association with clinical outcomes. IDH1/2 mutations cause gain-of-function resulting in the formation of an oncometabolite, R-2-hydroxyglutarate instead of α-ketoglutarate implying a disruption of oxidative decarboxylation of
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Almeida, Rafael de, William Cardoso da Silva, Henrique Iahnke Garbin, et al. "Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis." Clinical Nephrology 94, no. 4 (2020): 187–96. http://dx.doi.org/10.5414/cn110178.

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Skálová, Sylva, Miroslav Podhola, Karel Vondrák, and Gil Chernin. "Plasmapheresis-induced Clinical Improvement in a Patient with Steroid-Resistant Nephrotic Syndrome Due to Podocin (NPHS2) Gene Station." Acta Medica (Hradec Kralove, Czech Republic) 53, no. 3 (2010): 157–59. http://dx.doi.org/10.14712/18059694.2016.76.

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Podocin mutations (NPHS2 gene) are mostly responsible for steroid-resistant nephrotic syndrome (SRNS) of childhood onset. Patients with NPHS2 gene mutations do not respond to corticoids and other immunosuppressive agents; partial remission can be rarely induced by cyclosporin A. We present a boy, where SRNS was diagnosed within first year of life. By the age of 15 years, proteinuria reached 9000 mg/24 h, cholesterolemia 15 mmol/L, albuminemia 19.6 g/L, in spite of combined therapy with cyclosporine A, methylprednisolone, enalapril and losartan. At that time a combined heterozygous form of two
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Menara, Giulia, Nathalie Lefort, Corinne Antignac, and Géraldine Mollet. "Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene." Stem Cell Research 46 (July 2020): 101878. http://dx.doi.org/10.1016/j.scr.2020.101878.

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Jia, ZhuXia, Min Zhou, Xuzhang Lu, et al. "Cooperating Mutations of IDH1,IDH2, JAK2V617F, NPM1, FLT3-ITD,C-KIT Genes in Chinese Patients with De Novo Acute Myeloid Leukemias." Blood 118, no. 21 (2011): 4638. http://dx.doi.org/10.1182/blood.v118.21.4638.4638.

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Abstract Abstract 4638 Introduction: Acute myeloid leukemia (AML) is a heterogeneous group of aggressive disease with complex process,gene mutations play an important role in AML pathogenesis. Several genes have been identified in AML,such as FLT3, c-KIT, NPM1 and JAK2. Indeed, some mutations have revealed prognosis subgroups and modified the therapeutic management of these leukemias. Recently,novel mutations in IDH1(amino acid R132)and IDH2 (R140 and R172)have been found in patients with AMLs,but the frequency and impact on biological and prognostic features in Chinese patients with AMLs rema
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Chen, Chunyan, Jian Li, Ting Jiang, et al. "IDH Mutations Are Potentially the Intrinsic Genetic Link among the Multiple Neoplastic Lesions in Ollier Disease and Maffucci Syndrome: A Clinicopathologic Analysis from a Single Institute in Shanghai, China." Diagnostics 12, no. 11 (2022): 2764. http://dx.doi.org/10.3390/diagnostics12112764.

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Background: This study aims to investigate isocitrate dehydrogenase gene mutations in patients with the non-hereditary skeletal disorders of Ollier disease and Maffucci syndrome, particularly in the extraosseous tumours. Methods: A total of 16 tumours from three patients with Ollier disease and three patients with Maffucci syndrome were collected. Sanger sequencing was applied to determine the hotspot mutations of IDH1 and IDH2 genes in multiple neoplastic tissues. Results: A majority of the tumours displayed an IDH1 mutation (p.R132C in 11 tumours including the paediatric ovarian tumour from
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8

Jon, Cindy, Paul K. Nolan, Mfon Ekong, Ricardo A. Mosquera, and James M. Stark. "SFTPC gene mutation p.R167Q in a premature infant." Pediatric Pulmonology 49, no. 3 (2013): E66—E68. http://dx.doi.org/10.1002/ppul.22825.

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Nakashima, Mitsuko, Masakazu Miyajima, Hidenori Sugano, et al. "The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome." Journal of Human Genetics 59, no. 12 (2014): 691–93. http://dx.doi.org/10.1038/jhg.2014.95.

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Furrow, Eva, Nicole Tate, Katie Minor, et al. "An ABCC9 Missense Variant Is Associated with Sudden Cardiac Death and Dilated Cardiomyopathy in Juvenile Dogs." Genes 14, no. 5 (2023): 988. http://dx.doi.org/10.3390/genes14050988.

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Sudden cardiac death in the young (SCDY) is a devastating event that often has an underlying genetic basis. Manchester Terrier dogs offer a naturally occurring model of SCDY, with sudden death of puppies as the manifestation of an inherited dilated cardiomyopathy (DCM). We performed a genome-wide association study for SCDY/DCM in Manchester Terrier dogs and identified a susceptibility locus harboring the cardiac ATP-sensitive potassium channel gene ABCC9. Sanger sequencing revealed an ABCC9 p.R1186Q variant present in a homozygous state in all SCDY/DCM-affected dogs (n = 26). None of the contr
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Book chapters on the topic "P.R138Q"

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D. Al-Saadi, Tariq, and Roberto J. Diaz. "Noncanonical (Non-R132H) IDH-Mutated Gliomas." In Glioblastoma - Current Evidences [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.105469.

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Mutations in IDH1 or IDH2 confer a significant survival advantage compared to their isocitrate dehydrogenase (IDH) wild-type counterparts and, as such, are the most significant prognostic factors in this group. The mutations in the IDH1 gene are heterozygous and almost always involve only a single residue (arginine 132), which is replaced by histidine in roughly 90% of tumors. Regardless, the non-p.R132H (noncanonical) mutations in the IDH1 gene were also documented in around 20% of mutated glioma. The noncanonical IDH mutations have distinguishing radiological and histological features. The e
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