keyword
MENU ▼
Read by QxMD icon Read
search

Sanger review

keyword
https://www.readbyqxmd.com/read/28514307/exome-sequencing-identifies-a-de-novo-mutation-of-ctnnb1-gene-in-a-patient-mainly-presented-with-retinal-detachment-lens-and-vitreous-opacities-microcephaly-and-developmental-delay-case-report-and-literature-review
#1
Niu Li, Yufei Xu, Guoqiang Li, Tingting Yu, Ru-En Yao, Xiumin Wang, Jian Wang
RATIONALE: The CTNNB1 (β-catenin) gene is well known for its crucial role in cell adhesion and the Wnt-signaling pathway. Previous studies have shown that gain-of-function mutations in the CTNNB1 gene contribute to the occurrence and development of a variety of carcinomas in humans. Recently, de novo, heterozygous, loss-of-function mutations of the CTNNB1 gene were found that partially explain intellectual disability in some patients. Other major clinical symptoms in these patients included microcephaly, abnormal facial features, motor delays, speech impairments, and deformities of the hands and feet...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28502730/overgrowth-syndromes-caused-by-somatic-variants-in-the-phosphatidylinositol-3-kinase-akt-mammalian-target-of-rapamycin-pathway
#2
REVIEW
Gozde Akgumus, Fengqi Chang, Marilyn M Li
Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28483234/identification-of-a-novel-missence-mutation-in-fgfr3-gene-in-an-iranian-family-with-ladd-syndrome-by-next-generation-sequencing
#3
Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Amir Hooshang Bavarsad, Saeed Tizno
Lacrimo-auriculo-dento-digital syndrome (LADD) is a multiple congenital anomaly and a genetically heterogeneous disorder. The aim of this study was to identify the pathogenic gene in an Iranian family with LADD syndrome and review the literature on reported mutations that involved in pathogenesis of LADD syndrome. One novel variant, c.1882 G > A, in fibroblast growth factor receptor 3 (FGFR3) was identified by next generation sequencing and Sanger sequencing. The heterozygous FGFR3 c.1882 G > A variant results in substitution of aspartic acid with asparagine at amino acid 628 (p...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28482761/lack-of-association-between-adrenoreceptor-genotype-and-the-vasoconstriction-response-to-dexmedetomidine
#4
Robert H Friesen, Dobromir Slavov, Shelley D Miyamoto, Richard John Ing, Wells B LaRiviere, Matthew R G Taylor
An exaggerated vasoconstriction response to dexmedetomidine, an α-2 adrenergic agonist, has been associated with 2 genotypes: a deletion in the α-2B adrenoreceptor gene ( ADRA2B deletion) and SNP rs9922316 in the gene for protein kinase C type β ( PRKCB). We hypothesized that children with a marked systemic vascular resistance index (SVRI) increase following intravenous dexmedetomidine bolus would carry these genotypes. Following institutional review board approval, DNA samples from 16 children with transplanted hearts who participated in a study in the cardiac catheterization laboratory of hemodynamic responses to dexmedetomidine boluses underwent genotyping by polymerase chain reaction (PCR) amplification and PCR Sanger sequencing for the ADRA2B deletion and for PRKCB rs9922316...
May 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28469099/clinical-and-genetic-features-of-chinese-x-linked-charcot-marie-tooth-type-1-disease
#5
Yuan-Yuan Lu, He Lyu, Su-Qin Jin, Yue-Huan Zuo, Jing Liu, Zhao-Xia Wang, Wei Zhang, Yun Yuan
BACKGROUND: X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study presented the clinical and genetic features of a series of Chinese patients with GJB1 gene mutations. METHODS: A total of 22 patients from unrelated families, who were referred to Department of Neurology, Peking University First Hospital from January 2005 to January 2016, were identified with GJB1 mutations...
May 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28462386/association-of-variants-of-arginine-vasopressin-and-arginine%C3%A2-vasopressin-receptor-1a-with-severe-acetaminophen%C3%A2-liver-injury
#6
Matthew Randesi, Orna Levran, Joel Correa da Rosa, Julia Hankins, Jody Rule, Mary Jeanne Kreek, William M Lee
BACKGROUND & AIMS: Acetaminophen-related acute liver injury and liver failure (ALF) result from ingestion of supratherapeutic quantities of this analgesic, frequently in association with other forms of substance abuse including alcohol, opioids, and cocaine. Thus, overdosing represents a unique high-risk behavior associated with other forms of drug use disorder. METHODS: We examined a series of 21 single nucleotide polymorphisms (SNPs) in 9 genes related to impulsivity and/or stress responsivity that may modify response to stress...
May 2017: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#7
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28440597/external-quality-assessment-for-laboratory-testing-of-hla-b-15-02-allele-in-relation-to-carbamazepine-therapy
#8
Guigao Lin, Kuo Zhang, Yanxi Han, Jiehong Xie, Jinming Li
BACKGROUND: Due to the significant risk of developing Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN), the use of carbamazepine is not recommended in patients carrying the human leukocyte antigen B (HLA-B) *15:02 allele. In an effort to guarantee reliable community-based HLA-B*15:02 testing throughout China, a HLA-B*15:02 genotyping external quality assessment (EQA) program was set up. METHODS: In 2016, 10 genomic DNA samples with known HLA-B*15:02 allele status were sent to 37 laboratories from 16 provinces with a request for routine HLA-B*15:02 screening...
April 25, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28412069/whole-exome-sequencing-identifies-biallelic-idh3a-variants-as-a-cause-of-retinitis-pigmentosa-accompanied-by-pseudocoloboma
#9
Laurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, Lisa Roberts, Galuh D N Astuti, Alexey Obolensky, Avigail Beryozkin, Martha J H Tjon-Fo-Sang, Jose Schuil, Caroline C W Klaver, Ernie M H F Bongers, Lonneke Haer-Wigman, Nicoline Schalij, Martijn H Breuning, Gratia M Fischer, Eyal Banin, Raj S Ramesar, Anand Swaroop, L Ingeborgh van den Born, Dror Sharon, Frans P M Cremers
PURPOSE: To identify the genetic cause of and describe the phenotype in 4 families with autosomal recessive retinitis pigmentosa (arRP) that can be associated with pseudocoloboma. DESIGN: Case series. PARTICIPANTS: Seven patients from 4 unrelated families with arRP, among whom 3 patients had bilateral early-onset macular pseudocoloboma. METHODS: We performed homozygosity mapping and whole-exome sequencing in 5 probands and 2 unaffected family members from 4 unrelated families...
April 12, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28397217/-study-of-two-chinese-families-affected-with-resistant-ovarian-syndrome-resulted-from-novel-mutations-of-fshr-gene
#10
Wen Li, Wenbin He, Lihua Zhou, Xiao Hu, Shuangfei Li, Fei Gong, Yueqiu Tan
OBJECTIVE: To explore the genetic etiology for two Chinese families affected with hypergonadotropic amenorrhea and normal number of antral follicles. METHODS: Peripheral venous blood samples were collected from the families for the extraction of genomic DNA. Mutations of FSHR and LHCGR genes were screened using PCR and Sanger sequencing. Suspected pathogenic mutations were verified in other members of the families. Bioinformatics software and NCBI were used to analyze the pathogenicity of the mutations...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28365451/genetic-analysis-and-literature-review-of-chinese-patients-with-familial-renal-glucosuria-identification-of-a-novel-slc5a2-mutation
#11
Xiaojing Wang, Miao Yu, Tong Wang, Huabing Zhang, Fan Ping, Qian Zhang, Jianping Xu, Kai Feng, Xinhua Xiao
BACKGROUND: Familial renal glucosuria (FRG) is an inherited renal tubular disorder characterized by persistent isolated glucosuria with normal blood glucose. SLC5A2 gene mutation was the causative of FRG. METHODS: Molecular genetic analysis of SLC5A2 gene by Sanger sequencing was conducted in two unrelated non-consanguineous Chinese families with isolated glucosuria. Extensive laboratory test and physical examination were performed. In silico algorithms were used to explore the potential effect of novel mutation on SGLT2 function...
March 29, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28353383/sp174-nras-q61r-mutant-specific-antibody-cross-reacts-with-kras-q61r-mutant-protein-in-colorectal-carcinoma
#12
MULTICENTER STUDY
Jerzy Lasota, Artur Kowalik, Anna Felisiak-Golabek, Shingo Inaguma, Zeng-Feng Wang, Liliana Pięciak, Sebastian Zięba, Rafał Pęksa, Janusz Kopczynski, Krzysztof Okoń, Piotr Waloszczyk, Stanislaw Gozdz, Wojciech Biernat, Markku Miettinen
CONTEXT: - NRAS is a member of the RAS family oncoproteins implicated in cancer. Gain-of-function NRAS mutations were reported in a subset of colorectal cancers. These mutations occur at codons 12, 13, and 61 and are detected by molecular genetic testing. Recently, an antibody (clone SP174) became available to immunohistochemically pinpoint NRAS Q61R mutant protein. In malignant melanoma, NRAS Q61R mutant-specific immunohistochemistry was shown to be a valuable supplement to traditional genetic testing...
April 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28300276/reassessing-the-clinical-spectrum-associated-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-syndrome-in-french-fh-mutation-carriers
#13
M Muller, S Ferlicot, M Guillaud-Bataille, G Le Teuff, C Genestie, S Deveaux, A Slama, N Poulalhon, B Escudier, L Albiges, N Soufir, M-F Avril, B Gardie, C Saldana, Y Allory, A-P Gimenez-Roqueplo, B Bressac-de Paillerets, S Richard, P R Benusiglio
We addressed uncertainties regarding hereditary leiomyomatosis and renal cell carcinoma (HLRCC) by exploring all French cases, representing the largest series to date. Fumarate hydratase (FH) germline testing was performed with Sanger sequencing and qPCR/MLPA. Enzyme activity was measured when necessary. We carried out whenever possible a pathology review of RCC and S-(2-succino)-cysteine (2SC)/fumarate hydratase immunohistochemistry. We estimated survival using non-parametric Kaplan-Meier. There were 182 cases from 114 families...
March 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28298626/gain-of-function-mutation-p-arg225cys-in-scn11a-causes-familial-episodic-pain-and-contributes-to-essential-tremor
#14
Xue-Rong Leng, Xiao-Hong Qi, Yong-Tao Zhou, Yu-Ping Wang
Familial episodic pain is a rare autosomal-dominant disorder characterized by recurrent attacks of pain. The pathogenesis of familial episodic pain is not very clear so far. Essential tremor is the most common movement disorder, but the identification of essential tremor genes has remained elusive. We studied a four-generation Chinese family with early-onset familial episodic pain and adult onset familial essential tremor. All essential tremor diagnoses were confirmed based on a review of the questionnaires, videotaped neurological examinations and was then reconfirmed by a senior neurologist specializing in movement disorders using published criteria...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28296734/genetic-anticipation-in-a-special-form-of-hypertrophic-cardiomyopathy-with-sudden-cardiac-death-in-a-family-with-74-members-across-5-generations
#15
Xiying Guo, Chaomei Fan, Yanping Wang, Miao Wang, Chi Cai, Yinjian Yang, Shihua Zhao, Fujian Duan, Yishi Li
Hypertrophic cardiomyopathy (HCM) is the most common heritable heart disease. The genetic anticipation of HCM and its associated etiology, sudden cardiac death (SCD), remains unclear. The aim of this study was to investigate the mechanism underlying the genetic anticipation of HCM and associated SCD.An HCM family including 5 generations and 74 members was studied. Two-dimensional echocardiography was performed to diagnose HCM. The age of onset of HCM was defined as the age at first diagnosis according to hospital records...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28291249/analysis-of-sod1-mutations-in-a-chinese-population-with-amyotrophic-lateral-sclerosis-a-case-control-study-and-literature-review
#16
QianQian Wei, QingQing Zhou, YongPing Chen, RuWei Ou, Bei Cao, YaQian Xu, Jing Yang, Hui-Fang Shang
Although the copper/zinc superoxide dismutase-1 (SOD1) gene has been identified in both familial ALS (FALS) and sporadic ALS (SALS), it has rarely been studied in Chinese patients with ALS, and there are few studies with large samples. This study sought to assess the prevalence of SOD1 mutations in Chinese ALS patients. We screened a cohort of 499 ALS patients (487 SALS and 12 FALS) from the Department of Neurology at the West China Hospital of Sichuan University and analyzed all coding exons of SOD1 by Sanger sequencing...
March 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28273706/-multiple-congenital-anomalies-hypotonia-seizures-syndrome-1-case-report-and-review-of-literature
#17
Y F Xu, N Li, G Q Li, X M Wang, Y F Zhou, L Yin, J Wang
Objective: To analyze and summarize the clinical and molecular characteristics of the patients with multiple congenital anomalies- hypotonia-seizures syndrome 1 (MCAHS 1). Method: Clinical data and test results were collected from a patient who was diagnosed with confirmed genetic basis of MCAHS 1 in Shanghai Children's Medical Center since December 2015. The patient and his parents were examined by the next generation sequencing (NGS) technology using peripheral blood genomic DNA, and the relevant mutations identified by NGS were verified with Sanger sequencing...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28182618/the-evolving-landscape-of-hiv-drug-resistance-diagnostics-for-expanding-testing-in-resource-limited-settings
#18
Seth C Inzaule, Raph L Hamers, Roger Paredes, Chunfu Yang, Rob Schuurman, Tobias F Rinke de Wit
Global scale-up of antiretroviral treatment (ART) has dramatically changed the prospects of HIV/AIDS disease rendering life-long chronic care and treatment a reality for millions of HIV-infected patients. Affordable technologies to monitor ART are needed to ensure long-term durability of limited available drug regimens. HIV drug resistance tests can complement existing strategies in optimizing clinical decision-making for patients with treatment failure, in addition to facilitating population-based surveillance of HIV drug resistance...
February 9, 2017: AIDS Reviews
https://www.readbyqxmd.com/read/28173653/-coenzyme-q-10-treatment-for-one-child-with-coq6-gene-mutation-induced-nephrotic-syndrome-and-literature-review
#19
Q Cao, G M Li, H Xu, Q Shen, L Sun, X Y Fang, H M Liu, W Guo, Y H Zhai, B B Wu
Objective: To summarize the clinical manifestation and molecular characteristics of COQ6 mutation induced nephrotic syndrome, and to evaluate efficacy of CoQ(10) therapy. Method: Clinical data of the case with infantile nephrotic syndrome was summarized, including clinical manifestations, laboratory findings and family investigation. The patient received CoQ(10) 30 mg/(kg·d) therapy. Urine protein/creatinine ratio, serum albumin and creatinine were detected to assess the efficacy of the therapy. Result: (1) The 10 months old boy was presented with nephrotic level proteinuria and hypoalbuminemia...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28159677/clinicopathological-and-molecular-features-of-a-large-cohort-of-gastrointestinal-stromal-tumors-gists-and-review-of-the-literature-braf-mutations-in-kit-pdgfra-wild-type-gists-are-rare-events
#20
REVIEW
Sebastian Huss, Helen Pasternack, Michaela Angelika Ihle, Sabine Merkelbach-Bruse, Birthe Heitkötter, Wolfgang Hartmann, Marcel Trautmann, Heidrun Gevensleben, Reinhard Büttner, Hans-Ulrich Schildhaus, Eva Wardelmann
In KIT/PDGFRA wild-type gastrointestinal stromal tumors (wt-GISTs), BRAF mutations are regarded as alternative pathogenic events driving tumorigenesis. In our study, we aimed at analyzing a large cohort (n=444) of GISTs for BRAF mutations using molecular and immunohistochemical methods. More than 3000 GIST samples from caucasian patients were available in our GIST and Sarcoma Registry NRW. Of these, we selected 172 wt-GISTs to evaluate the frequency of BRAF mutations. Furthermore, 272 GISTs with a representative KIT and PDGFRA mutational status were selected...
April 2017: Human Pathology
keyword
keyword
26534
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"