keyword
MENU ▼
Read by QxMD icon Read
search

frameshift mutation

keyword
https://www.readbyqxmd.com/read/29144530/liddle-s-syndrome-in-an-african-male-due-to-a-novel-frameshift-mutation-in-the-beta-subunit-of-the-epithelial-sodium-channel-gene
#1
Robert Freercks, Surita Meldau, Erika Jones, Jason Ensor, Clarise Weimers-Willard, Brian Rayner
Resistant hypertension is a common clinical problem in South Africa and is frequently associated with low renin and aldosterone levels, especially in black Africans. In South Africa, novel variants in the epithelial sodium channel (ENaC) have been described to be associated with varying degrees of hypokalaemia and hypertension due to primary sodium retention. We report here a case of Liddle's syndrome due to a novel c.1709del11 (p.Ser570Tyrfs*20) deletion in the beta-subunit of the ENaC in a young black African male...
September 23, 2017: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/29142973/renal-amyloidosis-associated-with-5-novel%C3%A2-variants-in-the-fibrinogen-a-alpha-chain-protein
#2
Dorota Rowczenio, Maria Stensland, Gustavo A de Souza, Erik H Strøm, Janet A Gilbertson, Graham Taylor, Nigel Rendell, Shane Minogue, Yvonne A Efebera, Helen J Lachmann, Ashutosh D Wechalekar, Philip N Hawkins, Ketil R Heimdal, Kristian Selvig, Inger K Lægreid, Nathalie Demoulin, Selda Aydin, Julian D Gillmore, Tale N Wien
Introduction: Fibrinogen A alpha chain amyloidosis is an autosomal dominant disease associated with mutations in the fibrinogen A alpha chain (FGA) gene, and it is the most common cause of hereditary renal amyloidosis in the UK. Patients typically present with kidney impairment and progress to end-stage renal disease over a median time of 4.6 years. Methods: Six patients presented with proteinuria, hypertension, and/or lower limb edema and underwent detailed clinical and laboratory investigations...
May 2017: KI Reports
https://www.readbyqxmd.com/read/29141581/sanger-sequencing-in-exonic-regions-of-stk11-gene-uncovers-a-novel-de-novo-germline-mutation-c-962_963delcc-associated-with-peutz-jeghers-syndrome-and-elevated-cancer-risk-case-report-of-a-chinese-patient
#3
Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shou-Bin Ning, Shu-Han Sun
BACKGROUND: Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. CASE PRESENTATION: We reported an isolated PJS patient who died of colon cancer, whose blood sample was collected together with all the available family members'. The entire coding region of the STK11 gene was amplified by PCR and analyzed by Sanger sequencing, through which, a novel mutation, c...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29138412/novel-kiaa0753-mutations-extend-the-phenotype-of-skeletal-ciliopathies
#4
A Hammarsjö, Z Wang, R Vaz, F Taylan, M Sedghi, K M Girisha, D Chitayat, K Neethukrishna, P Shannon, R Godoy, K Gowrishankar, A Lindstrand, J Nasiri, M Baktashian, P T Newton, L Guo, W Hofmeister, M Pettersson, A S Chagin, G Nishimura, L Yan, N Matsumoto, A Nordgren, N Miyake, G Grigelioniene, S Ikegawa
The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29137431/mitochondrial-dna-depletion-mitochondrial-mutations-and-high-tfam-expression-in-hepatocellular-carcinoma
#5
Lihua Qiao, Guoqing Ru, Zhuochao Mao, Chenghui Wang, Zhipeng Nie, Qiang Li, Yiyi Huang-Yang, Ling Zhu, Xiaoyang Liang, Jialing Yu, Pingping Jiang
We investigated the role of mitochondrial genetic alterations in hepatocellular carcinoma by directly comparing the mitochondrial genomes of 86 matched pairs of HCC and non-tumor liver samples. Substitutions in 637 mtDNA sites were detected, comprising 89.80% transitions and 6.60% transversions. Forty-six somatic variants, including 15 novel mutations, were identified in 40.70% of tumor tissues. Of those, 21 were located in the non-coding region and 25 in the protein-coding region. Twenty-two somatic nonsynonymous changes were identified as putative pathogenic variants, including 4 truncating mutations produced by three frameshifts (MT-ATP6 8628 insC; MT-ND5 13475 T-del, and MT-CYB 14984 insA) and 1 nonsense mutation in MT-CO3 9253 G>A...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29136176/mutations-in-metg-methionyl-trna-synthetase-and-trmd-trna-guanine-n1-methyltransferase-conferring-meropenem-tolerance-in-burkholderia-thailandensis
#6
Hyojeong Yi, Hyeri Lee, Kwang-Hwi Cho, Heenam Stanley Kim
Objectives: Although meropenem is widely used to treat Burkholderia infections, the response of Burkholderia pathogens to this antibiotic is largely unexplored. Methods: Burkholderia thailandensis, a model for Burkholderia spp., particularly Burkholderia mallei and Burkholderia pseudomallei, was challenged with a lethal level of meropenem and survivors were isolated. The genomes of two of the isolates were analysed to identify mutated genes and these genes were then specifically examined in more isolates to profile mutation diversity...
November 9, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29135076/a-heterozygous-mutation-in-rpgr-associated-with-x-linked-retinitis-pigmentosa-in-a-patient-with-turner-syndrome-mosaicism-45-x-46-xx
#7
Qi Zhou, Fengxia Yao, Feng Wang, Hui Li, Rui Chen, Ruifang Sui
Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4-year follow-up and molecular findings in a 28-year-old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X-linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP...
November 14, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29132312/genomic-analysis-of-endemic-clones-of-toxigenic-and-non-toxigenic-corynebacterium-diphtheriae-in-belarus-during-and-after-the-major-epidemic-in-1990s
#8
Steffen Grosse-Kock, Valentina Kolodkina, Edward C Schwalbe, Jochen Blom, Andreas Burkovski, Paul A Hoskisson, Sylvain Brisse, Darren Smith, Iain C Sutcliffe, Leonid Titov, Vartul Sangal
BACKGROUND: Diphtheria remains a major public health concern with multiple recent outbreaks around the world. Moreover, invasive non-toxigenic strains have emerged globally causing severe infections. A diphtheria epidemic in the former Soviet Union in the 1990s resulted in ~5000 deaths. In this study, we analysed the genome sequences of a collection of 93 C. diphtheriae strains collected during and after this outbreak (1996 - 2014) in a former Soviet State, Belarus to understand the evolutionary dynamics and virulence capacities of these strains...
November 13, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29130579/a-homozygous-deleterious-cdk10-mutation-in-a-patient-with-agenesis-of-corpus-callosum-retinopathy-and-deafness
#9
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29127861/altered-ezh2-splicing-and-expression-is-associated-with-impaired-histone-h3-lysine-27-tri-methylation-in-myelodysplastic-syndrome
#10
Mizuho Shirahata-Adachi, Chisako Iriyama, Akihiro Tomita, Yasuhiro Suzuki, Kazuyuki Shimada, Hitoshi Kiyoi
BACKGROUND: EZH2 (enhancer of zeste homolog 2) is a histone H3K27 methyltransferase involved in the pathogenesis of various hematological malignancies. In myelodysplastic syndromes (MDS), loss of function of EZH2 is known to contribute to pathogenesis, however the pattern of EZH2 mRNA and protein expression in MDS has not been extensively characterized. MATERIAL AND METHODS: A total of 26 patients diagnosed with MDS were analyzed in this study. The relationship between EZH2 expression in patient bone marrow samples, evaluated by RT-PCR and immunoblotting, and patient characteristics were analyzed...
November 4, 2017: Leukemia Research
https://www.readbyqxmd.com/read/29127725/a-loss-of-function-homozygous-mutation-in-ddx59-implicates-a-conserved-dead-box-rna-helicase-in-nervous-system-development-and-function
#11
Vincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, Bhawana Maurya, Sarah Wiethoff, Balasubramaniem Ashokkumar, Maria Concetta Cutrupi, Valeria Dipasquale, Sara Manti, Juan A Botia, Mina Ryten, Jana Vandrovcova, Oscar D Bello, Conceicao Bettencourt, Kshitij Mankad, Ashim Mukherjee, Mousumi Mutsuddi, Henry Houlden
We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with oro-facio-digital syndrome phenotype associated to a broad neurological involvement characterized by microcephaly, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and sub-cortical ischemic events. DDX59 encodes a DEAD-box RNA helicase and its role in brain function and neurological diseases is unclear. We showed a reduction of mutant cDNA and perturbation of SHH signalling from patient-derived cell lines; furthermore, analysis of human brain gene expression provides evidence that DDX59 is enriched in oligodendrocytes and might act within pathways of leukoencephalopathies associated genes...
November 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/29127140/cancer-genes-mutation-profiling-in-calcifying-epithelial-odontogenic-tumour
#12
Sílvia Ferreira de Sousa, Marina Gonçalves Diniz, Josiane Alves França, Thaís Dos Santos Fontes Pereira, Rennan Garcias Moreira, Jean Nunes Dos Santos, Ricardo Santiago Gomez, Carolina Cavalieri Gomes
AIMS: To identify calcifying epithelial odontogenic tumour (CEOT) mutations in oncogenes and tumour suppressor genes. METHODS: A panel of 50 genes commonly mutated in cancer was sequenced in CEOT by next-generation sequencing. Sanger sequencing was used to cover the region of the frameshift deletion identified in one sample. RESULTS: Missense single nucleotide variants (SNVs) with minor allele frequency (MAF) <1% were detected in PTEN, MET and JAK3...
November 10, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29121515/the-genetic-basis-underlying-variation-in-production-of-the-flavour-compound-diacetyl-by-lactobacillus-rhamnosus-strains-in-milk
#13
Raquel Lo, Van Thi Thuy Ho, Nidhi Bansal, Mark S Turner
Diacetyl and the closely related compound acetoin impart desirable buttery flavour and odour to many foods including cheese and are generated through the metabolism of citrate by lactic acid bacteria (LAB). To increase the levels of these compounds, adjunct cultures capable of producing them can be added to cheese fermentations. In this study, we compared the diacetyl and acetoin producing abilities of 13 Lactobacillus rhamnosus strains from cheese sources. Diacetyl and acetoin production was found to be a common feature of Lb...
October 31, 2017: International Journal of Food Microbiology
https://www.readbyqxmd.com/read/29121437/a-novel-pitx2-mutation-in-non-syndromic-oro-dental-anomalies
#14
Narin Intarak, Thanakorn Theerapanon, Chupong Ittiwut, Kanya Suphapeetiporn, Thantrira Porntaveetus, Vorasuk Shotelersuk
OBJECTIVE: To identify oro-dental characteristics and genetic etiology of a family affected with non-syndromic oro-dental anomalies. SUBJECTS AND METHODS: Physical and oral features were characterised. DNA was collected from an affected Thai family. Whole exome sequencing was employed to identify the pathogenic variants associated with inherited oro-dental anomalies. The presence of the identified mutation was confirmed by Sanger sequencing. RESULTS: We observed unique oro-dental manifestations including oligodontia, retained primary teeth, taurodont molars, peg-shaped maxillary central incisors, high attached frenum with nodule, and midline diastema in the proband and her mother...
November 9, 2017: Oral Diseases
https://www.readbyqxmd.com/read/29121062/loss-of-function-jak1-mutations-occur-at-high-frequency-in-cancers-with-microsatellite-instability-and-are-suggestive-of-immune-evasion
#15
Lee A Albacker, Jeremy Wu, Peter Smith, Markus Warmuth, Philip J Stephens, Ping Zhu, Lihua Yu, Juliann Chmielecki
Immune evasion is a well-recognized hallmark of cancer and recent studies with immunotherapy agents have suggested that tumors with increased numbers of neoantigens elicit greater immune responses. We hypothesized that the immune system presents a common selective pressure on high mutation burden tumors and therefore immune evasion mutations would be enriched in high mutation burden tumors. The JAK family of kinases is required for the signaling of a host of immune modulators in tumor, stromal, and immune cells...
2017: PloS One
https://www.readbyqxmd.com/read/29118501/novel-pde6a-mutation-in-an-emirati-patient-with-retinitis-pigmentosa
#16
Pratibha Nair, Abdul Rezzak Hamzeh, Ethar Mustafa Malik, Darshjit Oberoi, Mahmoud Taleb Al-Ali, Fatma Bastaki
Mutations in the PDE6A gene are known to cause a form of retinitis pigmentosa (RP43), characterized by progressive retinal degeneration. We describe an Emirati patient with RP caused by a novel mutation in PDE6A. Clinical diagnosis of RP was made based on clinical evaluation and electroretinograms. The molecular analysis involved performing whole-exome sequencing, which enabled the identification of a homozygous 2-bp deletion (c.1358_1359delAT) in PDE6A, which was predicted to result in a frameshift and premature termination (p...
September 2017: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/29117466/dental-properties-ultrastructure-and-pulp-cells-associated-with-a-novel-dspp-mutation
#17
Thantrira Porntaveetus, Thanaphum Osathanon, Nunthawan Nowwarote, Prasit Pavasant, Chalurmpon Srichomthong, Kanya Suphapeetiporn, Vorasuk Shotelersuk
OBJECTIVE: To investigate physical characteristics and behaviours of dental pulp cells of teeth isolated from a dentinogenesis imperfecta (DGI) patient with a novel DSPP mutation. SUBJECTS AND METHODS: Whole exome and Sanger sequencing were employed to identify mutations. Physical characteristics of the teeth were examined. Pulp cells' behaviors including cell proliferation, colony forming unit, osteogenic differentiation, pluripotent markers, and mesenchymal stem cell markers were investigated...
November 8, 2017: Oral Diseases
https://www.readbyqxmd.com/read/29112224/variants-in-cib2-cause-dfnb48-and-not-ush1j
#18
K T Booth, K Kahrizi, M Babanejad, H Daghagh, G Bademci, S Arzhangi, D Zareabdollahi, D Duman, A El-Amraoui, M Tekin, H Najmabadi, H Azaiez, R J Smith
The genetic, mutational and phenotypic spectrum of deafness-causing genes shows great diversity and pleiotropy. The best examples are the group of genes, which when mutated can either cause non-syndromic hearing loss (NSHL) or the most common dual sensory impairment, Usher Syndrome (USH). Variants in the CIB2 gene have been previously reported to cause of hearing loss at the DFNB48 locus and deaf-blindness at the USH1J locus. In this study, we characterize the phenotypic spectrum in a multiethnic cohort with autosomal recessive non-syndromic hearing loss (ARNSHL) due to variants in the CIB2 gene...
November 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29110640/prevalence-and-molecular-characterization-of-pyrazinamide-resistance-among-multidrug-resistant-mycobacterium-tuberculosis-isolates-from-southern-china
#19
Yu Pang, Damian Zhu, Huiwen Zheng, Jing Shen, Yan Hu, Jie Liu, Yanlin Zhao
BACKGROUND: Pyrazinamide (PZA) plays a unique role in the treatment for multidrug-resistant tuberculosis (MDR-TB) in both first- and second-line regimens. The aim of this study was to investigate the prevalence and molecular characterization of PZA resistance among MDR-TB isolates collected in Chongqing municipality. METHODS: A total of 133 MDR-TB isolates were collected from the smear-positive tuberculosis patients who were registered at local TB dispensaries of Chongqing...
November 6, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29110337/pituitary-atypical-teratoid-rhabdoid-tumor-in-a-patient-with-prolactinoma-a-unique-description
#20
Valeria Barresi, Simona Lionti, Alessandro Raso, Felice Esposito, Salvatore Cannavò, Filippo F Angileri
Atypical teratoid rhabdoid tumor (ATRT) is an aggressive tumor of the CNS and characteristically occurs in the pediatric age. In adulthood, ATRT is rare and it is mainly localized in the cerebral hemispheres. Only 16 cases of ATRT have been described in the sellar region up to now. Interestingly, all sellar ATRTs occurred in adult female patients. Herein we report a novel case of sellar ATRT in a patient with previous history of lactotroph adenoma. Similar to other sellar ATRTs, this case occurred in a female adult patient...
November 6, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
keyword
keyword
103153
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"