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Journal articles on the topic 'P.R138Q'

Author: Grafiati

Published: 5 June 2025

Last updated: 1 August 2025

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1

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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2

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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3

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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4

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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5

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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6

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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7

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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9

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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10

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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11

Gravendeel, Lonneke A. M., Nanne K. Kloosterhof, Linda B. C. Bralten, et al. "Segregation of non-p.R132H mutations inIDH1in distinct molecular subtypes of glioma." Human Mutation 31, no. 3 (2010): E1186—E1199. http://dx.doi.org/10.1002/humu.21201.

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12

Sebert, Marie, Thomas Cluzeau, Odile Beyne Rauzy, et al. "Ivosidenib Monotherapy Is Effective in Patients with IDH1 Mutated Myelodysplastic Syndrome (MDS): The Idiome Phase 2 Study By the GFM Group." Blood 138, Supplement 1 (2021): 62. http://dx.doi.org/10.1182/blood-2021-146932.

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Abstract Background: Ivosidenib (IVO) is an oral, targeted, small-molecule inhibitor of mutant IDH1 approved in the US for adult patients with unfit or relapse/refractory AML with IDH1 mutation. Little is known on its efficacy in patients with IDH1 mutated MDS. Here we report interim results of a Phase 2 study evaluating safety and efficacy of IVO in three different cohorts of MDS patients: Higher risk MDS having failed azacytidine (AZA) (cohort A, n=29), untreated higher risk MDS without life threatening cytopenias (ie ANC &lt; 500/mm3 or any recent severe infections and/or platelets belo

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13

Hundt, Nikolas, Matthias Preller, Olga Swolski та ін. "Molecular mechanisms of disease-related human β-actin mutations p.R183W and p.E364K". FEBS Journal 281, № 23 (2014): 5279–91. http://dx.doi.org/10.1111/febs.13068.

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Салимбаева, Д. Н. "Molecular genetic characteristics of phenylketonuria in the population of Kazakhstan." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 7(216) (July 30, 2020): 73–75. http://dx.doi.org/10.25557/2073-7998.2020.07.73-75.

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Целью исследования было изучение спектра и выявление этнических особенностей мутаций гена РАН у пациентов с ФКУ в Казахстане. В статье представлены результаты молекулярно-генетического обследования 88 пациентов с ФКУ из неродственных семей, из них 36 пациентов казахской национальности, 44 русских, 5 уйгуров и 3 узбека. Наиболее частой мутацией в гене РАН у казахов была мутация p.243Q (с частотой 0,250), у русских, уйгур и узбеков - мутация p.R408W с частотой 0,545, 0,400 и 0,333 соответственно. Только у казахов были выявлены следующие мутации в гене РАН: IVS4+5G>T, IVS10-14C>G (0,028), p

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15

Brown, Natasha J., Zimeng Ye, Chloe Stutterd, et al. "Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome." Molecular Case Studies 7, no. 6 (2021): a006127. http://dx.doi.org/10.1101/mcs.a006127.

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Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported individuals. Features include benign enchondroma and spindle-cell hemangioma, with a recognized increased risk of various malignancies. Fewer than 200 affected individuals have been reported; therefore, accurate estimates of malignancy risk are difficult to quantify and recommended surveillance guidelines are not available. The same gain-of-function IDH1 and IDH2 variants are also

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16

Hemerly, Jefferson Pessoa, André Uchimura Bastos, and Janete M. Cerutti. "Identification of several novel non-p.R132 IDH1 variants in thyroid carcinomas." European Journal of Endocrinology 163, no. 5 (2010): 747–55. http://dx.doi.org/10.1530/eje-10-0473.

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ContextSomatic mutations at residue R132 of isocitrate dehydrogenase 1 (IDH1) were recently discovered in gliomas and leukaemia at a high frequency. IDH1 is a metabolic gene, and the R132 mutations create a new enzymatic activity.ObjectivesTo determine whether IDH1 had somatically acquired mutations in thyroid carcinomas.DesignExons 4 and 6 of IDH1 were sequenced in a large panel of thyroid tumours (n=138) and compared with the patients normal DNA (n=26). We also correlated IDH1 mutations with clinical–pathological data and BRAF and RAS mutational status.ResultsWe identified four novel and two

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17

Tsaknakis, Grigorios, Erasmia Boutakoglou, Stavros Papadakis, et al. "Malignant Transformation in Relationship to Clonal Hematopoiesis in CIN." Blood 144, Supplement 1 (2024): 2529. https://doi.org/10.1182/blood-2024-206786.

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Background: Chronic Idiopathic Neutropenia (CIN) is a neutrophil disorder characterized by the persistent and unexplained reduction in the number of peripheral blood (PB) neutrophils. The diagnostic criteria for CIN largely overlap with the idiopathic cytopenia of undetermined significance (ICUS)-Neutropenia proposed criteria. We have recently performed NGS analysis of myeloid genes for identification of clonal hematopoiesis (CH) in a cohort of well characterized CIN patients (n=257; aged 20-85 years, median 51 years, 54 males, 203 females). CH was identified in 33/257 patients (i.e. 12.8%). A

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18

Lee, Seung Yeob, Chunhwa Ihm, Dong-Jun Shin, et al. "The p.R168Q mutation is associated with the Bwphenotype and a predicted decrease in the stability of the resulting ABO glycosyltransferase." Transfusion 54, no. 5 (2013): 1298–304. http://dx.doi.org/10.1111/trf.12461.

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19

Qu, Jiaquan, Hong Yang, Nan Zhao, Jingwen Li, Jin Chai, and Min Liao. "763 – The Homozygous P.R148W Mutation in Semaphorin 7A (SEMA7A) Causes a Novel Liver Disease." Gastroenterology 156, no. 6 (2019): S—1212—S—1213. http://dx.doi.org/10.1016/s0016-5085(19)40014-0.

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20

Li, Qiaoli, Sara Sadowski, and Jouni Uitto. "Angioid Streaks in Pseudoxanthoma Elasticum: Role of the p.R1268Q Mutation in the ABCC6 Gene." Journal of Investigative Dermatology 131, no. 3 (2011): 782–85. http://dx.doi.org/10.1038/jid.2010.384.

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21

Karabinos, Anton, Drahomira Schwartzova, Renata Zemjarova Mezenska, et al. "The known high-risk p.R190Q KCNQ1-variant needs a second hit for QTc prolongation." Journal of Electrocardiology 90 (May 2025): 153924. https://doi.org/10.1016/j.jelectrocard.2025.153924.

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22

Ramos, H. E., A. Carré, L. Chevrier, et al. "Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations." European Journal of Endocrinology 171, no. 4 (2014): 499–507. http://dx.doi.org/10.1530/eje-13-1006.

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ContextWithin the last two decades, heterozygous loss-of-function PAX8 mutations have been reported in patients with a wide degree of thyroid gland dysfunction and growth despite the presence of identical mutations.ObjectivesTo search for PAX8 mutations in a cohort of patients with congenital hypothyroidism (CH) and various types of thyroid gland defects.DesignA cross-sectional study was conducted in a cohort of patients.SettingThe French neonatal screening program was used for recruiting patients.PatientsA total of 118 patients with CH, including 45 with familial and 73 with sporadic diseases

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23

Has, Cristina, Dimitra Kiritsi, Jemima E. Mellerio, et al. "The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome." Journal of Investigative Dermatology 134, no. 3 (2014): 845–49. http://dx.doi.org/10.1038/jid.2013.367.

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24

Johnston, Ann J., Jing-Qiong Kang, Wangzhen Shen, et al. "A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes." Neurobiology of Disease 64 (April 2014): 131–41. http://dx.doi.org/10.1016/j.nbd.2013.12.013.

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25

Ohka, Fumiharu, Sachi Maeda, Junya Yamaguchi, et al. "PATH-44. INTRA-OPERATIVE ANALYSES OF GENETIC ALTERATIONS IN THE CENTRAL NERVOUS SYSTEM TUMORS USING RAPID QUANTITATIVE PCR DEVICE." Neuro-Oncology 25, Supplement_5 (2023): v178. http://dx.doi.org/10.1093/neuonc/noad179.0674.

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Abstract Recent comprehensive molecular analyses of central nervous system (CNS) tumors identified several diagnostic or prognostic markers. IDH mutation, TERT promoter (pTERT) mutation and CDKN2A homozygous deletion in adult-type diffuse gliomas, BRAF p.V600E mutation in circumscribed astrocytic gliomas, histone H3 gene mutations in pediatric-type diffuse high-grade gliomas or MYD88 mutation in primary CNS lymphoma (PCNSL) are quite important markers. Intra-operative identification of these molecular alterations could be effective for decision-making of tumor removal strategy. In this study,

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Puig-Butillé, J. A., C. Carrera, R. Kumar, et al. "Distribution ofMC1Rvariants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population." British Journal of Dermatology 169, no. 4 (2013): 804–11. http://dx.doi.org/10.1111/bjd.12418.

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27

Yao, Yong-Gang. "IDH1 p.R132 mutations may not be actively involved in the carcinogenesis of hepatocellular carcinoma." Medical Science Monitor 20 (2014): 247–54. http://dx.doi.org/10.12659/msm.889891.

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28

Guo, Linjuan, Yuhao Su, Chen Chen, et al. "The TNNI3 p.R186Q mutation is responsible for hypertrophic cardiomyopathy via promoting FASN-stimulated abnormal fatty acid metabolism." Journal of Cardiovascular Aging 3, no. 1 (2022): 6. http://dx.doi.org/10.20517/jca.2022.29.

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Introduction: The TNNI3 gene encodes the protein of cardiac troponin I (cTnI), which is an inhibitory subunit of sarcomeres. Mutations in this gene account for 3% of hypertrophic cardiomyopathy (HCM) and the molecular mechanism is complex. Recently, lipid metabolism has been revealed to be involved in HCM. Aim: The purpose of this work is to identify whether the pathological mechanism of the hotspot mutation TNNI3 p.R186Q in HCM is related to abnormal lipid metabolism. Methods and Results: A knock-in (KI) mouse model carrying the Tnni3 p.R186Q homozygous mutation (Tnni3R186Q/R186Q) was novelty

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29

Antsiferova, E. V., T. V. Cherkashina, N. G. Wolf, et al. "Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data)." Rheumatology Science and Practice 59, no. 4 (2021): 455–62. http://dx.doi.org/10.47360/1995-4484-2021-455-462.

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The complexity of diagnosing and predicting the course of TNF-receptor-associated periodic syndrome TRAPS determines the importance of studying the dependence of clinical manifestations on the variant of genetic mutation and the presence of modifier genes. We observed 5 children with an identified diagnosis of TRAPS. It was established that the disease onset in most cases is defined as a juvenile arthritis with systemic onset. Genetic variants with the replacement of cysteine residues are associated with an early debut and an aggressive course, the c.362G> A p.R121Q mutation is associated w

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Wu, Juan, Lijia Chen, Oi Sin Tam, Xiu-Feng Huang, Chi-Pui Pang, and Zi-Bing Jin. "Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa." BioMed Research International 2014 (2014): 1–6. http://dx.doi.org/10.1155/2014/302487.

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Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP), the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general molecular screening alone is inadequate for identifying genetic predispositions in susceptible individuals. In order to identify underlying mutation rapidly, we utilized next-generation sequencing in a four-generation Chinese family with RP. Two affected patients and an unaffected sibling were subjec

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Xiao, Hongtao, Yuna Tong, Yuxuan Zhu та Min Peng. "Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums". Journal of Ophthalmology 2019 (16 листопада 2019): 1–24. http://dx.doi.org/10.1155/2019/5782536.

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Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by incomplete vascularization/abnormality of peripheral retina. Four of the identified disease-causing genes of FEVR were NDP, FZD4, LRP5, and TSPAN12, the protein coded by which were the components of the Norrin/β-catenin signal pathway. In this review, we summarized and discussed the spectrum of mutations involving these four genes. By the end of 2017, the number of FEVR causing mutations reported for NDP, FZD4, LRP5, and TSPAN12 was, respectively, 26, 121, 58, and 40. Three most frequently reported mut

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Alzahrani, Ali S., Minjing Zou, Essa Y. Baitei, et al. "Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance." Clinical Endocrinology 76, no. 4 (2012): 540–47. http://dx.doi.org/10.1111/j.1365-2265.2011.04258.x.

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Heckman, Michael G., Alexis Elbaz, Alexandra I. Soto-Ortolaza, et al. "The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants." Neurobiology of Aging 35, no. 1 (2014): 266.e5–266.e14. http://dx.doi.org/10.1016/j.neurobiolaging.2013.07.013.

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QI, XIAO-PING, WEN-TING LIU, JIN-YU LI, et al. "p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees." Molecular Medicine Reports 8, no. 3 (2013): 799–805. http://dx.doi.org/10.3892/mmr.2013.1578.

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Kurt, Habibe, Carlos E. Bueso-Ramos, Joseph D. Khoury, et al. "Value of Immunohistochemistry-Based Direct Visualization for Localization, Lineage Determination and Monitoring of IDH1 p.R132H Mutant Clones in AML." Blood 128, no. 22 (2016): 1726. http://dx.doi.org/10.1182/blood.v128.22.1726.1726.

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Abstract Background Isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations are important prognostic biomarkers in acute myeloid leukemia (AML). Although the clinicopathologic correlates of IDH mutations have been extensively studied, the distribution of abnormal myeloid cells carrying these mutations has not been studied. Specific localization of cells carrying IDH mutations will be useful in further understanding the pathophysiology and post-treatment biology of IDH mutant cases of AML. This characterization is becoming particularly relevant for identification of minimal residual disease, espec

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Xia, W., Y. Sun, O. Wang, et al. "The p.R176Q mutation in FGF-23 gene is firstly found in a Chinese family with autosomal dominant hypophosphatemic rickets." Bone 44 (May 2009): S128. http://dx.doi.org/10.1016/j.bone.2009.01.283.

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37

Ashirov, Nurali, Iroda Mammadinova, Aidos Moldabekov, et al. "A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report." Medicina 59, no. 6 (2023): 1056. http://dx.doi.org/10.3390/medicina59061056.

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Background: Maffucci syndrome is a rare genetic disorder associated with the development of multiple enchondromas and soft tissue cavernous hemangiomas, as well as an increased risk of malignant tumors. Case Description: Here we report a case of Maffucci syndrome in a patient who presented with a giant left frontal lobe tumor. Molecular genetic analysis of the tumor revealed an isocitrate dehydrogenase (IDH) mutation p.R132H (c.395C>A) mutation in the IDH1 gene and a heterozygous duplication of the CDKN2A genes. Conclusions: The presence of an IDH1 mutation is notable because this mutation

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38

Bleeker, Fonnet E., Simona Lamba, Sieger Leenstra, et al. "IDH1mutations at residue p.R132 (IDH1R132) occur frequently in high-grade gliomas but not in other solid tumors." Human Mutation 30, no. 1 (2009): 7–11. http://dx.doi.org/10.1002/humu.20937.

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39

Taboas, Melisa, Luciana Gómez Acuña, María Florencia Scaia, et al. "Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene." PLoS ONE 9, no. 3 (2014): e92181. http://dx.doi.org/10.1371/journal.pone.0092181.

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40

Wohner, N., P. Legendre, C. Casari, O. D. Christophe, P. J. Lenting, and C. V. Denis. "Shear stress-independent binding of von Willebrand factor-type 2B mutants p.R1306Q & p.V1316M to LRP1 explains their increased clearance." Journal of Thrombosis and Haemostasis 13, no. 5 (2015): 815–20. http://dx.doi.org/10.1111/jth.12885.

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Tao, Tian, Yuan Yang, and Zhangxue Hu. "A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5." Medicine 99, no. 31 (2020): e21438. http://dx.doi.org/10.1097/md.0000000000021438.

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Pinto, Anna, Mustafa Sahin, and Phillip L. Pearl. "Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome." F1000Research 5 (March 18, 2016): 370. http://dx.doi.org/10.12688/f1000research.7605.1.

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Epilepsy is a major morbidity in Sturge Weber syndrome, a segmental vascular neurocutaneous disorder classically associated with facial angiomas, glaucoma, and leptomeningeal capillary-venous type vascular malformations. The extent of the latter correlates with neurological outcome. Post-zygotic mosaicism for the activating mutation p.R183Q of the GNAQ gene has been identified as the major cause. GNAQ encodes for an alpha subunit of a heterotrimeric G protein critical to blood vessel development. The earlier the timing of the mutation in development, the more severe the involvement, e.g. from

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Huang, Shasha, Guojian Wang, Yu Xu, Yongyi Yuan, Dongyi Han, and Pu Dai. "Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes." Acta Oto-Laryngologica 133, no. 1 (2012): 55–58. http://dx.doi.org/10.3109/00016489.2012.715373.

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Alagarasu, Kalichamy, Rupali V. Bachal, Indraneel Damle, Paresh S. Shah, and Dayaraj Cecilia. "Association of FCGR2A p.R131H and CCL2 c.-2518 A>G gene variants with thrombocytopenia in patients with dengue virus infection." Human Immunology 76, no. 11 (2015): 819–22. http://dx.doi.org/10.1016/j.humimm.2015.09.042.

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Kennerson, Marina L., Eun J. Kim, Anna Siddell, et al. "X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene." Journal of the Peripheral Nervous System 21, no. 1 (2016): 45–51. http://dx.doi.org/10.1111/jns.12160.

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Rocca, Maria Santa, Giovanni Minervini, Andrea Di Nisio, et al. "Identification of Rare LRP5 Variants in a Cohort of Males with Impaired Bone Mass." International Journal of Molecular Sciences 22, no. 19 (2021): 10834. http://dx.doi.org/10.3390/ijms221910834.

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Osteoporosis is the most common bone disease characterized by reduced bone mass and increased bone fragility. Genetic contribution is one of the main causes of primary osteoporosis; therefore, both genders are affected by this skeletal disorder. Nonetheless, osteoporosis in men has received little attention, thus being underestimated and undertreated. The aim of this study was to identify novel genetic variants in a cohort of 128 males with idiopathic low bone mass using a next-generation sequencing (NGS) panel including genes whose mutations could result in reduced bone mineral density (BMD).

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Sun, Xinxin, Qingbin Jia, Kun Li, et al. "Comparative genomic landscape of lower-grade glioma and glioblastoma." PLOS ONE 19, no. 8 (2024): e0309536. http://dx.doi.org/10.1371/journal.pone.0309536.

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Biomarkers for classifying and grading gliomas have been extensively explored, whereas populations in public databases were mostly Western/European. Based on public databases cannot accurately represent Chinese population. To identify molecular characteristics associated with clinical outcomes of lower-grade glioma (LGG) and glioblastoma (GBM) in the Chinese population, we performed whole-exome sequencing (WES) in 16 LGG and 35 GBM tumor tissues. TP53 (36/51), TERT (31/51), ATRX (16/51), EFGLAM (14/51), and IDH1 (13/51) were the most common genes harboring mutations. IDH1 mutation (c.G395A; p.

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Kim, Sun-Young, Jin-Hong Shin, Jin-Sung Park, et al. "NUDT15 p.R139C variant is common and strongly associated with azathioprine-induced early leukopenia and severe alopecia in Korean patients with various neurological diseases." Journal of the Neurological Sciences 378 (July 2017): 64–68. http://dx.doi.org/10.1016/j.jns.2017.04.041.

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Stubberud, Anker, Emer O’Connor, Erling Tronvik, Henry Houlden, and Manjit Matharu. "R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report." Case Reports in Neurology 13, no. 1 (2021): 123–30. http://dx.doi.org/10.1159/000512275.

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Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected

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Lim, Si On, Na Young Jung, Ah Jin Lee, et al. "Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea." Genes 13, no. 3 (2022): 462. http://dx.doi.org/10.3390/genes13030462.

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Small heat shock proteins (sHSPs) are ATP-independent chaperones that help correct the folding of denatured proteins and protect cells from stress. Mutations in HSPB1, HSPB8, and HSPB3 are implicated in inherited peripheral neuropathies (IPNs), such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal hereditary motor neuropathies (dHMN). This study, using whole exome sequencing or targeted gene sequencing, identified 9 pathogenic or likely pathogenic variants in these three sHSP genes from 11 Korean IPN families. Most variants were located in the evolutionally well conserved α-crystallin d

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