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In silico analysis missense mutation

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https://www.readbyqxmd.com/read/29688405/a-homozygous-mutation-p-arg2167trp-in-frem2-causes-isolated-cryptophthalmos
#1
Qian Yu, Bingying Lin, Shangqian Xie, Song Gao, Wei Li, Yizhi Liu, Hongwei Wang, Danping Huang, Zhi Xie
Cryptophthalmos (CO, MIM: 123570) is rare congenital anomalies of eyelid formation, which can occur alone or in combination with multiple congenital anomalies as part of Fraser syndrome (FS) or Manitoba Oculotrichoanal (MOTA) syndrome. Causal mutations have been identified for these syndromes but not in the isolated cases. Here, we described two patients from two unrelated Chinese families: one with unilateral isolated CO, while the other with unilateral CO and renal agenesis. A novel homozygous mutation (c...
April 24, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29685341/mutational-spectrum-of-pts-gene-and-in-silico-pathological-assessment-of-a-novel-variant-in-mexico
#2
Cynthia Fernández-Lainez, Isabel Ibarra-González, Miguel Ángel Alcántara-Ortigoza, Liliana Fernández-Hernández, Sergio Enríquez-Flores, Ariadna González-Del Ángel, Nenad Blau, Beat Thöny, Sara Guillén-López, Leticia Belmont-Martínez, Matilde Ruiz-García, Marcela Vela-Amieva
BACKGROUND: Tetrahydrobiopterin (BH4) is the cofactor for 6-pyruvoyl-tetrahydropterin synthase (PTPS); it is involved in BH4 biosynthesis and is encoded by PTS gene. Its deficiency (PTPSD) is characterized by hyperphenylalaninemia (HPA) and deficit in central monoamine neurotransmitters. We describe the clinical and mutational spectrum of five patients with PTPSD, from four unrelated Mexican families. All patients had symptomatic diagnosis and presented severe early neurological manifestations and HPA...
April 20, 2018: Brain & Development
https://www.readbyqxmd.com/read/29673180/accurate-classification-of-nf1-gene-variants-in-84-italian-patients-with-neurofibromatosis-type-1
#3
Alessandro Stella, Patrizia Lastella, Daria Carmela Loconte, Nenad Bukvic, Dora Varvara, Margherita Patruno, Rosanna Bagnulo, Rosaura Lovaglio, Nicola Bartolomeo, Gabriella Serio, Nicoletta Resta
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the NF1 gene encoding for the large protein, neurofibromin. Genetic testing of NF1 is cumbersome because 50% of cases are sporadic, and there are no mutation hot spots. In addition, the most recognizable NF1 clinical features—café-au-lait (CALs) spots and axillary and/or inguinal freckling—appear early in childhood but are rather non-specific. Thus, the identification of causative variants is extremely important for early diagnosis, especially in paediatric patients...
April 17, 2018: Genes
https://www.readbyqxmd.com/read/29663862/dynamics-and-structural-stability-effects-of-germline-pten-mutations-associated-with-cancer-versus-autism-phenotypes
#4
Iris Nira Smith, Stetson Thacker, Ritika Jaini, Charis Eng
Individuals with germline mutations in the tumor suppressor gene phosphatase and tensin homolog (PTEN), irrespective of clinical presentation, are diagnosed with PTEN hamartoma tumor syndrome (PHTS). PHTS confers a high risk of breast, thyroid, and other cancers or autism spectrum disorder (ASD) with macrocephaly. It remains unclear why mutations in one gene can lead to seemingly disparate phenotypes. Thus, we sought to identify differences in ASD vs. cancer-associated germline PTEN missense mutations by investigating putative structural effects induced by each mutation...
April 17, 2018: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29658579/identification-of-tyr-mutations-in-patients-with-oculocutaneous-albinism
#5
Wan Sun, Yanjie Shen, Shan Shan, Liyun Han, Yang Li, Zheng Zhou, Zilin Zhong, Jianjun Chen
Oculocutaneous albinism (OCA) is a set of autosomal recessive disorders characterized by hypopigmented hair, skin and eyes. Homozygous or compound heterozygous mutations in the tyrosinase (TYR) gene can cause OCA1, which is the most common and severe subtype of albinism. In the present study, 17 patients with non‑syndromic OCA were enrolled from eight provinces of China and were non‑consanguineous, with the exception of Patient 4000301. Total genomic DNA was isolated from peripheral blood. Screening was performed for the whole exons and their flanking regions of the TYR gene using Sanger sequencing and the pathogenicity of variants was predicted using in silico analysis...
April 13, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29652675/an-intronic-mutation-c-6430-3c-g-in-the-f8-gene-causes-splicing-efficiency-and-premature-termination-in-hemophilia-a
#6
Zunjing Xia, Jie Lin, Lingping Lu, Chol Kim, Ping Yu, Ming Qi
: Hemophilia A is a bleeding disorder caused by coagulation factor VIII protein deficiency or dysfunction, which is classified into severe, moderate, and mild according to factor clotting activity. An overwhelming majority of missense and nonsense mutations occur in exons of F8 gene, whereas mutations in introns can also be pathogenic. This study aimed to investigate the effect of an intronic mutation, c.6430-3C>G (IVS22-3C>G), on pre-mRNA splicing of the F8 gene. We applied DNA and cDNA sequencing in a Chinese boy with hemophilia A to search if any pathogenic mutation in the F8 gene...
April 12, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29587644/a-novel-germline-armc5-mutation-in-a-patient-with-bilateral-macronodular-adrenal-hyperplasia-a-case-report
#7
Qiuli Liu, Dali Tong, Jing Xu, Xingxia Yang, Yuting Yi, Dianzheng Zhang, Luofu Wang, Jun Zhang, Yao Zhang, Yaoming Li, Lianpeng Chang, Rongrong Chen, Yanfang Guan, Xin Yi, Jun Jiang
BACKGROUND: Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing's syndrome (CS). BMAH is predominantly believed to be caused by two mutations, a germline and somatic one, respectively, as described in the two-hit hypothesis. In many familial cases of BMAH, mutations in armadillo repeat containing 5 (ARMC5), a putative tumor suppressor gene, are thought to induce the disorder. The objective of this study was to report a case in which the patient presented with BMAH induced by a novel heterozygous germline ARMC5 mutation (c...
March 27, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29582526/whole-exome-sequencing-reveals-a-novel-missense-mutation-in-the-mars-gene-related-to-a-rare-charcot-marie-tooth-neuropathy-type-2u
#8
Lena Sagi-Dain, Lilach Shemer, Nathanel Zelnik, Yusri Zoabi, Orit Sadeh, Vardit Adir, Aharon Schif, Amir Peleg
BACKGROUND: Charcot-Marie-Tooth (CMT) is a heterogeneous group of progressive disorders, characterized by chronic motor and sensory polyneuropathy. This hereditary disorder is related to numerous genes and varying inheritance patterns. Thus, many patients do not reach a final genetic diagnosis. PATIENT: We describe a 13-years old girl presenting with progressive bilateral leg weakness and gait instability. Extensive laboratory studies and spinal Magnetic resonance imaging scan were normal...
March 26, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29580235/performance-of-in-silico-prediction-tools-for-the-classification-of-rare-brca1-2-missense-variants-in-clinical-diagnostics
#9
Corinna Ernst, Eric Hahnen, Christoph Engel, Michael Nothnagel, Jonas Weber, Rita K Schmutzler, Jan Hauke
BACKGROUND: The use of next-generation sequencing approaches in clinical diagnostics has led to a tremendous increase in data and a vast number of variants of uncertain significance that require interpretation. Therefore, prediction of the effects of missense mutations using in silico tools has become a frequently used approach. Aim of this study was to assess the reliability of in silico prediction as a basis for clinical decision making in the context of hereditary breast and/or ovarian cancer...
March 27, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29556235/exome-sequencing-diagnoses-x-linked-moesin-associated-immunodeficiency-in-a-primary-immunodeficiency-case
#10
Gabrielle Bradshaw, Robbie R Lualhati, Cassie L Albury, Neven Maksemous, Deidre Roos-Araujo, Robert A Smith, Miles C Benton, David A Eccles, Rod A Lea, Heidi G Sutherland, Larisa M Haupt, Lyn R Griffiths
Background: We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood. Aim: To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency. Method: Whole genome microarray copy number variant (CNV) analysis was performed on the proband followed by whole exome sequencing (WES) and trio analysis of the proband and family members...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29540456/role-of-disputed-mutations-in-the-rpob-gene-in-interpretation-of-automated-liquid-mgit-culture-results-for-rifampin-susceptibility-testing-of-mycobacterium-tuberculosis
#11
Paolo Miotto, Andrea M Cabibbe, Emanuele Borroni, Massimo Degano, Daniela M Cirillo
Low-level rifampin resistance associated with specific rpoB mutations (referred as "disputed") in Mycobacterium tuberculosis is easily missed by some phenotypic methods. To understand the mechanism by which some mutations are systematically missed by MGIT phenotypic testing, we performed an in silico analysis of their effect on the structural interaction between the RpoB protein and rifampin. We also characterized 24 representative clinical isolates by determining MICs on 7H10 agar and testing them by an extended MGIT protocol...
May 2018: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/29531935/a-rare-missense-mutation-and-a-polymorphism-with-high-frequency-in-ldlr-gene-among-iranian-patients-with-familial-hypercholesterolemia
#12
Masoud Tajamolian, Parisa Kolahdouz, Parvaneh Nikpour, Seyed Khalil Forouzannia, Mohammad Hasan Sheikhha, Ehsan Farashahi Yazd
Background: Familial hypercholesterolemia (FH) is a disorder that is inherited by autosomal dominant pattern. The main cause of FH disease is the occurrence of mutations in low-density lipoprotein receptor (LDLR) gene sequence, as well as apolipoprotein B and proprotein convertase subtilisin/kexin type 9 genes, located in the next ranks, respectively. Materials and Methods: Forty-five unrelated Iranian patients with FH were screened using a high-resolution melting (HRM) method for exon 9 along with intron/exon boundaries of LDLR gene...
2018: Advanced Biomedical Research
https://www.readbyqxmd.com/read/29519373/novel-mutations-associated-with-pyruvate-kinase-deficiency-in-brazil
#13
Maria Carolina Costa Melo Svidnicki, Andrey Santos, Jhonathan Angel Araujo Fernandez, Ana Paula Hitomi Yokoyama, Isis Quezado Magalhães, Vitoria Regia Pereira Pinheiro, Silvia Regina Brandalise, Paulo Augusto Achucarro Silveira, Fernando Ferreira Costa, Sara Teresinha Olalla Saad
BACKGROUND: Pyruvate kinase deficiency is a hereditary disease that affects the glycolytic pathway of the red blood cell, causing nonspherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait and shows a marked variability in clinical expression. This study reports on the molecular characterization of ten Brazilian pyruvate kinase-deficient patients and the genotype-phenotype correlations. METHOD: Sanger sequencing and in silico analysis were carried out to identify and characterize the genetic mutations...
January 2018: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/29516370/novel-mutation-of-ppox-gene-in-a-patient-with-abdominal-pain-and-syndrome-of-inappropriate-antidiuresis
#14
Isabella Tabaro, Giuseppe Reimondo, Giangiacomo Osella, Caterina Aurizi, Pasquale Caraci, Luca Barbieri, Daniela Francesca Giachino, Fabio Sirchia, Massimo Terzolo
PURPOSE: Acute porphyrias are metabolic disorders of heme biosynthesis characterized by acute life-threatening attacks. The diagnosis is often missed since clinical presentation is aspecific mimicking other medical and surgical conditions. Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP mutations are family specific. We report the case of a 40 year-old woman who presented many times to the emergency department complaining of unexplained abdominal pain and laboratory investigations showed repeatedly hyponatremia...
March 7, 2018: Endocrine
https://www.readbyqxmd.com/read/29506309/lhcgr-gene-analysis-in-girls-with-non-classic-central-precocious-puberty
#15
Hwal Rim Jeong, Hae Sang Lee, Jin Soon Hwang
BACKGROUND: Luteinizing hormone (LH) is a useful parameter in diagnosing precocious puberty. The pubertal response of serum LH to a GnRH stimulation test is varied, and clinical symptoms of precocious puberty are sometimes disproportionate with serum LH concentrations. Many patients present in a state of precocious puberty that advances rapidly, but the post-GnRH peak LH remains prepubertal. LH receptor mutations are suspected of involvement in the non-classic type of central precocious puberty (CPP)...
March 5, 2018: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/29503442/siglec-genes-confer-resistance-to-systemic-lupus-erythematosus-in-humans-and-mice
#16
Rhonda Flores, Peng Zhang, Wei Wu, Xu Wang, Peiying Ye, Pan Zheng, Yang Liu
A recent meta-analysis revealed the contribution of the SIGLEC6 locus to the risk of developing systemic lupus erythematosus (SLE). However, no specific Siglec (sialic acid-binding immunoglobulin-like lectin) genes (Siglecs) have been implicated in the pathogenesis of SLE. Here, we performed in silico analysis of the function of three major protective alleles in the locus and found that these alleles were expression quantitative trait loci that enhanced expression of the adjacent SIGLEC12 gene. These data suggest that SIGLEC12 may protect against the development of SLE in Asian populations...
March 5, 2018: Cellular & Molecular Immunology
https://www.readbyqxmd.com/read/29491055/mutational-and-functional-analysis-of-fancb-as-a-candidate-gene-for-sporadic-head-and-neck-squamous-cell-carcinomas
#17
Marcel F Glaas, Constanze Wiek, Linda-Maria Wolter, Katharina Roellecke, Vera Balz, Vera Okpanyi, Martin Wagenmann, Thomas Karl Hoffmann, Rene Grässlin, Christian Plettenberg, Jörg Schipper, Helmut Hanenberg, Kathrin Scheckenbach
BACKGROUND/AIM: Head and neck squamous cell carcinomas (HNSCCs) form a heterogeneous tumor entity located throughout the oral cavity, pharynx and larynx that is caused predominantly by chemically or virally induced carcinogenesis. Heterozygous germline mutations in cancer susceptibility genes might also lead to increased incidence of HNSCCs. As DNA stability is typically impaired in HNSCC cells and genes of the Fanconi anemia/BRCA DNA repair pathway can be mutated or down-regulated in HNSCCs, we investigated here whether germline mutations occur in the X-chromosomal FANCB as candidate gene...
March 2018: Anticancer Research
https://www.readbyqxmd.com/read/29479812/rare-lpl-gene-missense-mutation-in-an-infant-with-hypertriglyceridemia
#18
Yuan-Yuan Qin, Ai-Qiu Wei, Qing-Wen Shan, Xiao-Ying Xian, Yang-Yang Wu, Lin Liao, Jie Yan, Zhan-Feng Lai, Fa-Quan Lin
BACKGROUND: Severe hypertriglyceridemia usually results from a combination of genetic and environmental factors and is most often attributable to mutations in the lipoprotein lipase (LPL) gene. OBJECTIVES: The aim of this study was to identify rare mutations in the LPL gene causing severe hypertriglyceridemia. METHODS: A Chinese infant who presented classical features of severe hypertriglyceridemia recruited for DNA sequencing of the LPL gene...
February 25, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29461140/genetic-investigation-of-ocular-developmental-genes-in-52-patients-with-anophthalmia-microphthalmia
#19
Nair Gopinathan Vidya, Sankaranarayanan Rajkumar, Abhay R Vasavada
BACKGROUND: Mutation in eye developmental genes has been reported to cause anophthalmia and microphthalmia. However, in India, especially in the Western Indian population, such reports are scarce. Hence, the present study aims to investigate mutations in 15 ocular developmental genes in patients with anophthalmia and microphthalmia in the western region of India. MATERIALS AND METHODS: Genomic DNA was isolated from the blood of 52 individuals affected with microphthalmia and anophthalmia, and 50 healthy normal controls...
June 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29459034/investigating-the-influence-of-hotspot-mutations-in-protein-protein-interaction-of-idh1-homodimer-protein-a-computational-approach
#20
D Thirumal Kumar, P Sneha, Jennifer Uppin, S Usha, C George Priya Doss
Protein-protein interaction (PPI) helps in maintaining the cellular homeostasis. In particular, the homodimeric proteins play a crucial role as cell regulators. Studying the critical functions of each PPI on the living system is very challenging. The mutations in the PPIs have given birth to various diseases including many types of cancers and it has soon become the target for drug discovery. The mutations in IDH1, an asymmetric homodimer in the cytoplasm, leads to various diseases including gliomas. In this study, we have used extensive computational approaches to identify the impact of missense mutations (R132C, R132G, R132H, R132L, R132S, and V178I) occurring in the interacting region of the IDH1 homodimer...
2018: Advances in Protein Chemistry and Structural Biology
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