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https://www.readbyqxmd.com/read/28727877/genetic-predisposition-to-breast-cancer-due-to-mutations-other-than-brca1-and-brca2-founder-alleles-among-ashkenazi-jewish-women
#1
Tom Walsh, Jessica B Mandell, Barbara M Norquist, Silvia Casadei, Suleyman Gulsuner, Ming K Lee, Mary-Claire King
Importance: Among Ashkenazi Jewish women, 3 mutations in BRCA1 and BRCA2 severely increase the risk of breast and ovarian cancer. However, among Ashkenazi Jewish patients with breast cancer who do not carry one of these founder mutations, the likelihood of carrying another pathogenic mutation in BRCA1 or BRCA2 or another breast cancer gene is not known. This information would be valuable to the patient and family for cancer prevention and treatment. Objective: To determine the frequency of cancer-predisposing mutations other than the BRCA1 and BRCA2 founder alleles among patients of Ashkenazi Jewish ancestry with breast cancer...
July 20, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28727005/rapid-communication-generation-of-fgf5-knockout-sheep-via-the-crispr-cas9-system
#2
R Hu, Z Y Fan, B Y Wang, S L Deng, X S Zhang, J L Zhang, H B Han, Z X Lian
Sheep are an important source of fiber production. Fibroblast growth factor 5 (FGF5) is a dominant inhibitor of length of the anagen phase of the hair cycle. Knockout or silencing of the gene results in a wooly coat in mice, donkeys, dogs, and rabbits. In sheep breeding, wool length is one of the most important wool quality traits. However, traditional breeding cannot accurately and efficiently mediate an advanced genotype into the sheep genome. In this study, we generated 3 knockout sheep via the 1-step clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 system...
May 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28726569/founder-ashkenazi-jewish-mutations-of-large-deletion-in-the-inherited-retinal-dystrophy-genes
#3
John Pei-Wen Chiang, Hongyu Luo, Jie Duan, Josef Ekstein, Yoel Hirsch
No abstract text is available yet for this article.
July 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28723952/evidence-for-prehistoric-origins-of-the-g2019s-mutation-in-the-north-african-berber-population
#4
Rafiqua Ben El Haj, Ayyoub Salmi, Wafa Regragui, Ahmed Moussa, Naima Bouslam, Houyam Tibar, Ali Benomar, Mohamed Yahyaoui, Ahmed Bouhouche
The most common cause of the monogenic form of Parkinson's disease known so far is the G2019S mutation of the leucine-rich repeat kinase 2 (LRRK2) gene. Its frequency varies greatly among ethnic groups and geographic regions ranging from less than 0.1% in Asia to 40% in North Africa. This mutation has three distinct haplotypes; haplotype 1 being the oldest and most common. Recent studies have dated haplotype 1 of the G2019S mutation to about 4000 years ago, but it remains controversial whether the mutation has a Near-Eastern or Moroccan-Berber ancestral origin...
2017: PloS One
https://www.readbyqxmd.com/read/28720660/an-amish-founder-mutation-disrupts-a-pi-3-p-whamm-arp2-3-complex-driven-autophagosome-remodeling-pathway
#5
Alyssa J Mathiowetz, Emma Baple, Ashley J Russo, Alyssa M Coulter, Eric Carrano, Judith D Brown, Robert N Jinks, Andrew H Crosby, Kenneth G Campellone
Actin nucleation factors function to organize, shape, and move membrane-bound organelles, yet they remain poorly defined in relation to disease. Galloway-Mowat syndrome (GMS) is an inherited disorder characterized by microcephaly and nephrosis resulting from mutations in the WDR73 gene. This core clinical phenotype appears frequently in the Amish, where virtually all affected individuals harbor homozygous founder mutations in WDR73 as well as the closely linked WHAMM gene, which encodes a nucleation factor...
July 18, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#6
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28719828/functional-analysis-of-pcsk2-coding-variants-a-founder-effect-in-the-old-order-amish-population
#7
Alexandra Winters, Bruno Ramos-Molina, Timothy S Jarvela, Laura Yerges-Armstrong, Toni I Pollin, Iris Lindberg
AIMS: In humans, noncoding variants of PCSK2, the gene encoding prohormone convertase 2 (PC2), have been previously associated with risk for and age of onset of type 2 diabetes (T2D). The aims of this study were to identify coding variants in PCSK2; to determine their possible association with glucose handling; and to determine functional outcomes for coding variants in biochemical studies. METHODS: Exome-wide genotyping was performed on 1725 Old Order Amish (OOA) subjects...
July 3, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28717054/simple-generation-of-hairless-mice-for-in-vivo-imaging
#8
Yoshikazu Hoshino, Seiya Mizuno, Kanako Kato, Saori Mizuno-Iijima, Yoko Tanimoto, Miyuki Ishida, Noriko Kajiwara, Tomoki Sakasai, Yoshihiro Miwa, Satoru Takahashi, Ken-Ichi Yagami, Fumihiro Sugiyama
The in vivo imaging of mice makes it possible to analyze disease progress non-invasively through reporter gene expression. As the removal of hair improves the accuracy of in vivo imaging, gene-modified mice with a reporter gene are often crossed with Hos:HR-1 mutant mice homozygous for the spontaneous Hr(hr) mutation that exhibit a hair loss phenotype. However, it is time consuming to produce mice carrying both the reporter gene and mutant Hr(hr) gene by mating. In addition, there is a risk that genetic background of the gene-modified mice would be altered by mating...
July 18, 2017: Experimental Animals
https://www.readbyqxmd.com/read/28710804/clinical-features-and-mutation-spectrum-in-chinese-patients-with-cadasil-a-multicenter-retrospective-study
#9
Sheng Chen, Wang Ni, Xinzhen Yin, Han-Qiu Liu, Cong Lu, Qiao-Juan Zheng, Gui-Xian Zhao, Yongfeng Xu, Lei Wu, Liang Zhang, Ning Wang, Hong-Fu Li, Zhi-Ying Wu
AIM: To characterize clinical features and mutation spectrum in Chinese patients with CADASIL. METHODS: We collected 261 clinically suspected Chinese CADASIL patients from three hospitals located in different regions of China. Sanger sequencing is performed to screen the exons 2 to 24 of NOTCH3 gene. Clinical and genetic data were retrospectively studied. Haplotype analyses were performed in patients carrying p.Arg544Cys and p.Arg607Cys, respectively. RESULTS: A total of 214 patients were finally genetically diagnosed as CADASIL, with 45 known NOTCH3 mutations and a novel c...
July 14, 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28704707/a-founder-mutation-underlies-a-severe-form-of-phosphoglutamase-3-pgm3-deficiency-in-tunisian-patients
#10
Leila Ben-Khemis, Najla Mekki, Imen Ben-Mustapha, Karen Rouault, Fethi Mellouli, Monia Khemiri, Mohamed Bejaoui, Leila Essaddam, Saayda Ben-Becher, Lamia Boughamoura, Saida Hassayoun, Meriem Ben-Ali, Mohamed-Ridha Barbouche
Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Mutations in PGM3 gene have been recently shown to underlie a new congenital disorder of glycosylation often associated to elevated IgE. Herein, we report twelve PGM3 deficient patients. They belong to three highly consanguineous families, originating from a rural district in the west central Tunisia...
July 10, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28704210/factor-xiii-deficiency-in-south-of-tunisia
#11
Ines Maaloul, Moez Medhaffer, Nacim Louhichi, Imen Krichen, Sofien Alibi, Sana Kmiha, Hajer Aloulou, Faiza Fakhfakh, Moez Elloumi, Choumous Kallel, Mongia Hachicha
: Factor XIII deficiency is a rare autosomal recessive disorder of hemostasis characterized by a plasmatic factor XIII level less than 1% in homozygote and bleeding as of the youth. The aim of the study is to describe the clinical features and the outcome of the patients and to determine molecular characteristics. A retrospective study, was conducted on seven patients with factor XIII deficiency in the department of hematology and pediatrics, Hedi Chaker Hospital, Sfax, Tunisia during the period of 14 years (2001-2014)...
July 12, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28702026/lessons-from-genetic-studies-of-primary-immunodeficiencies-in-a-highly-consanguineous-population
#12
REVIEW
Mohamed-Ridha Barbouche, Najla Mekki, Meriem Ben-Ali, Imen Ben-Mustapha
During the last decades, the study of primary immunodeficiencies (PIDs) has contributed tremendously to unravel novel pathways involved in a variety of immune responses. Many of these PIDs have an autosomal recessive (AR) mode of inheritance. Thus, the investigation of the molecular basis of PIDs is particularly relevant in consanguineous populations from Middle East and North Africa (MENA). Although significant efforts have been made in recent years to develop genetic testing across the MENA region, few comprehensive studies reporting molecular basis of PIDs in these settings are available...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28697925/variable-expressivity-of-a-founder-mutation-in-the-eif2ak4-gene-in-hereditary-pulmonary-veno-occlusive-disease-and-its-impact-on-survival
#13
Paula Navas Tejedor, Julián Palomino Doza, Jair Antonio Tenorio Castaño, Ana Belén Enguita Valls, José Julián Rodríguez Reguero, Amaya Martínez Meñaca, Ignacio Hernández González, Héctor Bueno Zamora, Pablo Daniel Lapunzina Badía, Pilar Escribano Subías
INTRODUCTION AND OBJECTIVES: Hereditary pulmonary veno-occlusive disease (PVOD) has been associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder mutation in Iberian Romani patients with familial PVOD. The aims of this study were phenotypical characterization and survival analysis of Iberian Romani patients with familial PVOD carrying the founder p.Pro1115Leu mutation in EIF2AK4, according to their tolerance to pulmonary vasodilators (PVD). Familial genetic screening was conducted, as well as assessment of sociocultural determinants with a potential influence on disease course...
July 8, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28694259/high-efficiency-non-mosaic-crispr-mediated-knock-in-and-mutations-in-f0-xenopus
#14
Yetki Aslan, Emmanuel Tadjuidje, Aaron M Zorn, Sang-Wook Cha
The revolution in CRISPR-mediated genome editing has enabled the mutation and insertion of virtually any DNA sequence, particularly in cell culture where selection can be used to recover relatively rare homologous recombination events. The efficient use of this technology in animal models still presents a number of challenges including the time to establish mutant lines, mosaic gene editing in founder animals, and low homologous recombination rates. Here we report a method for CRISPR-mediated genome editing in Xenopus oocytes with homology-dependent repair (HDR) that provides efficient non-mosaic targeted insertion of small DNA fragments of 40-50 nucleotides, in 4...
July 10, 2017: Development
https://www.readbyqxmd.com/read/28688230/mutation-landscape-and-intra-tumor-heterogeneity-of-two-manecs-of-the-esophagus-revealed-by-multi-region-sequencing
#15
Wenqing Yuan, Zhen Liu, Wanjun Lei, Li Sun, Haijun Yang, Yu Wang, Shweta Ramdas, Xiao Dong, Ruiping Xu, Hong Cai, Jun Z Li, Yang Ke
Mixed adenoneuroendocrine carcinoma (MANEC) in the esophagus is an infrequent but highly malignant cancer with few known genomic alterations. We conducted whole-exome sequencing and whole-genome SNP genotyping for 4-6 tumor subregions and 5-6 adjacent normal tissue sites and 1-3 lymph node metastases in two esophageal MANECs to detect somatic mutations and copy number alterations, and to explore their spatial heterogeneity and underlying clonal structure. TP53 mutation, RB1 deletion or LOH, and PIK3CA, PTEN, KRAS, SOX2, DVL3, TP63 amplification appeared in all regions in both tumors...
June 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28685474/novel-brca1-splice-site-mutation-in-ovarian-cancer-patients-of-slavic-origin
#16
Ana Krivokuca, Vita Setrajcic Dragos, Ljiljana Stamatovic, Ana Blatnik, Ivana Boljevic, Vida Stegel, Jelena Rakobradovic, Petra Skerl, Stevo Jovandic, Mateja Krajc, Mirjana Brankovic Magic, Srdjan Novakovic
Mutations in breast cancer susceptibility gene 1 (BRCA1) lead to defects in a number of cellular pathways including DNA damage repair and transcriptional regulation, resulting in the elevated genome instability and predisposing to breast and ovarian cancers. We report a novel mutation LRG_292t1:c.4356delA,p.(Ala1453Glnfs*3) in the 12th exon of BRCA1, in the splice site region near the donor site of intron 12. It is a frameshift mutation with the termination codon generated on the third amino acid position from the site of deletion...
July 6, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28684525/wild-emmer-genome-architecture-and-diversity-elucidate-wheat-evolution-and-domestication
#17
Raz Avni, Moran Nave, Omer Barad, Kobi Baruch, Sven O Twardziok, Heidrun Gundlach, Iago Hale, Martin Mascher, Manuel Spannagl, Krystalee Wiebe, Katherine W Jordan, Guy Golan, Jasline Deek, Batsheva Ben-Zvi, Gil Ben-Zvi, Axel Himmelbach, Ron P MacLachlan, Andrew G Sharpe, Allan Fritz, Roi Ben-David, Hikmet Budak, Tzion Fahima, Abraham Korol, Justin D Faris, Alvaro Hernandez, Mark A Mikel, Avraham A Levy, Brian Steffenson, Marco Maccaferri, Roberto Tuberosa, Luigi Cattivelli, Primetta Faccioli, Aldo Ceriotti, Khalil Kashkush, Mohammad Pourkheirandish, Takao Komatsuda, Tamar Eilam, Hanan Sela, Amir Sharon, Nir Ohad, Daniel A Chamovitz, Klaus F X Mayer, Nils Stein, Gil Ronen, Zvi Peleg, Curtis J Pozniak, Eduard D Akhunov, Assaf Distelfeld
Wheat (Triticum spp.) is one of the founder crops that likely drove the Neolithic transition to sedentary agrarian societies in the Fertile Crescent more than 10,000 years ago. Identifying genetic modifications underlying wheat's domestication requires knowledge about the genome of its allo-tetraploid progenitor, wild emmer (T. turgidum ssp. dicoccoides). We report a 10.1-gigabase assembly of the 14 chromosomes of wild tetraploid wheat, as well as analyses of gene content, genome architecture, and genetic diversity...
July 7, 2017: Science
https://www.readbyqxmd.com/read/28680148/prevalence-and-penetrance-of-brca1-and-brca2-germline-mutations-in-colombian-breast-cancer-patients
#18
D Torres, J Lorenzo Bermejo, M U Rashid, I Briceño, F Gil, A Beltran, V Ariza, U Hamann
Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively screened 68 Colombian breast/ovarian cancer families for small-range mutations, 221 families for large-genomic rearrangements, and 1,022 unselected breast cancer cases for Colombian founder mutations in BRCA1/2. The risk of cancer among relatives of mutation carriers and the mutation penetrance were estimated by survival analysis...
July 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28680109/deep-intronic-variant-of-fukutin-is-the-most-prevalent-point-mutation-of-fukuyama-congenital-muscular-dystrophy-in-japan
#19
Kazuhiro Kobayashi, Reiko Kato, Eri Kondo-Iida, Mariko Taniguchi-Ikeda, Makiko Osawa, Kayoko Saito, Tatsushi Toda
Fukuyama congenital muscular dystrophy (FCMD), which is caused by mutations in the fukutin gene, is the second most common form of childhood muscular dystrophy in Japan. The founder haplotype is the most prevalent in the chromosomes of Japanese FCMD patients, and corresponds to an SVA retrotransposal insertion in the 3'-untranslated region of fukutin. Although other mutations have been reported, the mutation corresponding to the second most prevalent haplotype in Japanese FCMD patients remained unknown. Recently a deep-intronic point mutation c...
July 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28678739/brca1-and-brca2-founder-mutations-account-for-78-of-germline-carriers-among-hereditary-breast-cancer-families-in-chile
#20
Carolina Alvarez, Teresa Tapia, Elisa Perez-Moreno, Patricia Gajardo-Meneses, Catalina Ruiz, Mabel Rios, Claudio Missarelli, Mariela Silva, Adolfo Cruz, Luis Matamala, Luis Carvajal-Carmona, Mauricio Camus, Pilar Carvallo
Identifying founder mutations in BRCA1 and BRCA2 in specific populations constitute a valuable opportunity for genetic screening. Several studies from different populations have reported recurrent and/or founder mutations representing a relevant proportion of BRCA mutation carriers. In Latin America, only few founder mutations have been described. We screened 453 Chilean patients with hereditary breast cancer for mutations in BRCA1 and BRCA2. For recurrent mutations, we genotyped 11 microsatellite markers in BRCA1 and BRCA2 in order to determine a founder effect through haplotype analysis...
June 29, 2017: Oncotarget
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