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https://www.readbyqxmd.com/read/28743124/the-role-of-discoidin-domain-receptor-1-in-inflammation-fibrosis-and-renal-disease
#1
Aude Dorison, Jean-Claude Dussaule, Christos Chatziantoniou
Discoidin domain receptors (DDRs) are a family of 2 non-integrin collagen receptors, DDR1 and DDR2, which display a tyrosine kinase activity. They are mainly expressed during embryonic development and their role during adulthood is very limited. DDR1 has been widely studied in several types of cancers, in atherosclerosis and fibrosis, but also in chronic kidney disease (CKD). This review focuses on the role of DDR1 in chronic nephropathies and on the effect of its deletion in the pathological processes involved in renal disease progression...
July 26, 2017: Nephron
https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#2
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
July 25, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28743105/statistical-interactions-from-a-growth-curve-perspective
#3
Sean M Devlin, Jaya M Satagopan
Logistic regression is widely used to evaluate the association between risk factors and a binary outcome. The logistic curve is symmetric around its point of inflection. Alternative families of curves, such as the additive Gompertz or Guerrero-Johnson models, have been proposed in various scenarios due to their asymmetry: disease risk may initially increase rapidly and be followed by a longer period where the rate of growth slowly decreases. When modeling binary outcomes in relation to risk factors, an additive logistic model may not provide a good fit to the data...
July 26, 2017: Human Heredity
https://www.readbyqxmd.com/read/28743067/-we-must-cooperate-with-one-another-against-the-enemy-agency-and-activism-in-school-aged-children-as-protective-factors-against-ongoing-war-trauma-and-political-violence-in-the-gaza-strip
#4
Guido Veronese, Alessandro Pepe, Alaa Jaradah, Feda Murannak, Housam Hamdouna
This exploratory qualitative study investigated self-perceived risk and protection factors that may reinforce the ability of children living in refugee camps on the Gaza Strip to adjust to a traumatic and risky life context characterized by loss and dispossession. The sample comprised 200 Palestinian children recruited at primary schools in four refugee camps in the Gaza Strip following the Israeli military operation "Pillar of Defence" in 2012. Thematic content analysis was applied to written materials and narratives produced by the children...
July 22, 2017: Child Abuse & Neglect
https://www.readbyqxmd.com/read/28742871/comprehensive-immune-profiling-reveals-substantial-immune-system-alterations-in-a-subset-of-patients-with-amyotrophic-lateral-sclerosis
#5
Michael P Gustafson, Nathan P Staff, Svetlana Bornschlegl, Greg W Butler, Mary L Maas, Mohamed Kazamel, Adeel Zubair, Dennis A Gastineau, Anthony J Windebank, Allan B Dietz
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a median lifespan of 2-3 years after diagnosis. There are few meaningful treatments that alter progression in this disease. Preclinical and clinical studies have demonstrated that neuroinflammation may play a key role in the progression rate of ALS. Despite this, there are no validated biomarkers of neuroinflammation for use in clinical practice or clinical trials. Biomarkers of neuroinflammation could improve patient management, provide new therapeutic targets, and possibly help stratify clinical trial selection and monitoring...
2017: PloS One
https://www.readbyqxmd.com/read/28742868/combining-ability-of-highland-tropic-adapted-potato-for-tuber-yield-and-yield-components-under-drought
#6
Betaw Hirut, Hussein Shimelis, Mengistu Fentahun, Merideth Bonierbale, Manuel Gastelo, Asrat Asfaw
Recurrent drought and late blight disease are the major factors limiting potato productivity in the northwest Ethiopian highlands. Incorporating drought tolerance and late blight resistance in the same genotypes will enable the development of cultivars with high and stable yield potential under erratic rainfall conditions. The objectives of this study were to assess combining ability effects and gene action for tuber yield and traits related to drought tolerance in the International Potato Centre's (CIP's) advanced clones from the late blight resistant breeding population B group 'B3C2' and to identify promising parents and families for cultivar development...
2017: PloS One
https://www.readbyqxmd.com/read/28742857/dna-immunisation-with-dengue-virus-e-protein-domains-i-ii-but-not-domain-iii-enhances-zika-west-nile-and-yellow-fever-virus-infection
#7
Jose L Slon Campos, Monica Poggianella, Sara Marchese, Monica Mossenta, Jyoti Rana, Francesca Arnoldi, Marco Bestagno, Oscar R Burrone
Dengue virus (DENV), the causative agent of dengue disease, is among the most important mosquito-borne pathogens worldwide. DENV is composed of four closely related serotypes and belongs to the Flaviviridae family alongside other important arthropod-borne viral pathogens such as Zika virus (ZIKV), West Nile virus (WNV) and Yellow Fever virus (YFV). After infection, the antibody response is mostly directed to the viral E glycoprotein which is composed of three structural domains named DI, DII and DIII that share variable degrees of homology among different viruses...
2017: PloS One
https://www.readbyqxmd.com/read/28742844/control-of-runx-induced-repression-of-notch-signaling-by-mlf-and-its-partner-dnaj-1-during-drosophila-hematopoiesis
#8
Marion Miller, Aichun Chen, Vanessa Gobert, Benoit Augé, Mathilde Beau, Odile Burlet-Schiltz, Marc Haenlin, Lucas Waltzer
A tight regulation of transcription factor activity is critical for proper development. For instance, modifications of RUNX transcription factors dosage are associated with several diseases, including hematopoietic malignancies. In Drosophila, Myeloid Leukemia Factor (MLF) has been shown to control blood cell development by stabilizing the RUNX transcription factor Lozenge (Lz). However, the mechanism of action of this conserved family of proteins involved in leukemia remains largely unknown. Here we further characterized MLF's mode of action in Drosophila blood cells using proteomic, transcriptomic and genetic approaches...
July 25, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28742838/identification-of-novel-antigen-candidates-for-a-tuberculosis-vaccine-in-the-adult-zebrafish-danio-rerio
#9
Henna Myllymäki, Mirja Niskanen, Kaisa Ester Oksanen, Eleanor Sherwood, Maarit Ahava, Mataleena Parikka, Mika Rämet
Tuberculosis (TB) remains a major global health challenge and the development of a better vaccine takes center stage in fighting the disease. For this purpose, animal models that are capable of replicating the course of the disease and are suitable for the early-stage screening of vaccine candidates are needed. A Mycobacterium marinum infection in adult zebrafish resembles human TB. Here, we present a pre-clinical screen for a DNA-based tuberculosis vaccine in the adult zebrafish using an M. marinum infection model...
2017: PloS One
https://www.readbyqxmd.com/read/28742792/evidence-for-genetic-association-between-chromosome-1q-loci-and-predisposition-to-colorectal-neoplasia
#10
Stephanie A Schubert, Dina Ruano, Fadwa A Elsayed, Arnoud Boot, Stijn Crobach, Arantza Farina Sarasqueta, Bruce Wolffenbuttel, Melanie M van der Klauw, Jan Oosting, Carli M Tops, Ronald van Eijk, Hans Fa Vasen, Rolf Ham Vossen, Maartje Nielsen, Sergi Castellví-Bel, Clara Ruiz-Ponte, Ian Tomlinson, Malcolm G Dunlop, Pavel Vodicka, Juul T Wijnen, Frederik J Hes, Hans Morreau, Noel Fcc de Miranda, Rolf H Sijmons, Tom van Wezel
BACKGROUND: A substantial fraction of familial colorectal cancer (CRC) and polyposis heritability remains unexplained. This study aimed to identify predisposing loci in patients with these disorders. METHODS: Homozygosity mapping was performed using 222 563 SNPs in 302 index patients with various colorectal neoplasms and 3367 controls. Linkage analysis, exome and whole-genome sequencing were performed in a family affected by microsatellite stable CRCs. Candidate variants were genotyped in 10 554 cases and 21 480 controls...
July 25, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28742512/the-sphingomyelin-synthase-family-proteins-diseases-and-inhibitors
#11
Yang Chen, Yu Cao
Sphingomyelin (SM) is among the most important biomolecules in eukaryotes and acts as both constructive components and signal carrier in physiological process. SM is catalyzed by a membrane protein family, sphingomyelin synthases (SMSs), consisting of three members, SMS1, SMS2 and SMSr. SMSs modulate sphingomyelin and other sphingolipids levels, thereby regulating membrane mobility, ceramide-dependent apoptosis and DAG-dependent signaling pathway. SMSs was found associated with various diseases. Downregulation of SMS2 activity results in protective effects against obesity, atherosclerosis, and diabetes, makes SMS2 inhibitors potential medicines...
July 26, 2017: Biological Chemistry
https://www.readbyqxmd.com/read/28742282/med-resulting-from-recessively-inherited-mutations-in-the-gene-encoding-calcium-activated-nucleotidase-cant1
#12
Karthika Balasubramanian, Bing Li, Deborah Krakow, Lisette Nevarez, Patric J Ho, Julia A Ainsworth, Deborah A Nickerson, Michael J Bamshad, LaDonna Immken, Ralph S Lachman, Daniel H Cohn
Multiple Epiphyseal Dysplasia (MED) is a relatively mild skeletal dysplasia characterized by mild short stature, joint pain, and early-onset osteoarthropathy. Dominantly inherited mutations in COMP, MATN3, COL9A1, COL9A2, and COL9A3, and recessively inherited mutations in SLC26A2, account for the molecular basis of disease in about 80-85% of the cases. In two families with recurrent MED of an unknown molecular basis, we used exome sequencing and candidate gene analysis to identify homozygosity for recessively inherited missense mutations in CANT1, which encodes calcium-activated nucleotidase 1...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742265/congenital-disorders-of-glycosylation-the-saudi-experience
#13
Sarah Alsubhi, Amal Alhashem, Eissa Faqeih, Majid Alfadhel, Abdullah Alfaifi, Waleed Altuwaijri, Saud Alsahli, Hesham Aldhalaan, Fowzan S Alkuraya, Khalid Hundallah, Adel Mahmoud, Ali Alasmari, Fuad Al Mutairi, Hanem Abduraouf, Layan AlRasheed, Saad Alshahwan, Brahim Tabarki
We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were classified into different subtypes: ALG9-CDG (8 patients, 29.5%), ALG3-CDG (7 patients, 26%), COG6-CDG (7 patients, 26%), MGAT2-CDG (3 patients, 11%), SLC35A2-CDG (1 patient), and PMM2-CDG (1 patient). All the patients had homozygous gene mutations. The combined carrier frequency of CDG for the encountered founder mutations in the Saudi population is 11...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742217/the-inflammatory-cytokine-interferon-gamma-inhibits-sortilin-1-expression-in-hepatocytes-via-the-jak-stat-pathway
#14
John Pirault, Konstantinos A Polyzos, Marcelo H Petri, Daniel Fj Ketelhuth, Magnus Bäck, Göran K Hansson
Sortilin-1, a receptor of the VPS10p family, has been associated with cardiovascular disease in genome-wide association studies. It is implicated in lipoprotein metabolism, secretion of proprotein convertase subtilisin/kexin type 9 (PCSK9) and secretion of inflammatory cytokines. However, its own regulation remains unclear. Chronic inflammation is a hallmark of atherosclerosis and absence of regulatory T (Treg) cells is associated with reduced protein expression of sortilin-1 in the liver. Therefore, we postulated that mediator(s) of inflammation known to be downregulated by regulatory T cells may modulate sortilin-1 expression...
July 25, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/28741615/patient-and-disease-characteristics-associated-with-the-presence-of-diabetes-mellitus-in-adults-with-chronic-pancreatitis-in-the-united-states
#15
Melena D Bellin, David C Whitcomb, Judah Abberbock, Stuart Sherman, Bimaljit S Sandhu, Timothy B Gardner, Michelle A Anderson, Michele D Lewis, Samer Alkaade, Vikesh K Singh, John Baillie, Peter A Banks, Darwin Conwell, Gregory A Cote, Nalini M Guda, Thiruvengadam Muniraj, Gong Tang, Randall E Brand, Andres Gelrud, Stephen T Amann, Christopher E Forsmark, C Mel Wilcox, Adam Slivka, Dhiraj Yadav
OBJECTIVES: Diabetes mellitus (DM) is a common complication of chronic pancreatitis (CP). Past studies for DM risk factors in CP have been limited to single centers or highly focused on a single etiology such as alcoholic or hereditary disease. We studied risk factors for DM in a large population of patients with CP of all etiologies enrolled in the North American Pancreatitis 2 studies. METHODS: Participants (1,171) with CP (n=383 with DM, n=788 without DM) were enrolled prospectively from 26 participating centers...
July 25, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28741581/regret-about-the-decision-to-start-dialysis-a-cross-sectional-dutch-national-survey
#16
N Berkhout-Byrne, A Gaasbeek, M J K Mallat, T J Rabelink, S P Mooijaart, F W Dekker, M van Buren
BACKGROUND: More older patients with end-stage renal disease (ESRD) are starting dialysis. Elderly patients often prefer treatments that focus on quality of life rather than primarily extending life and a substantial group of elderly dialysis patients might regret their decision to start dialysis. Healthcare provider and patient-related factors may be involved. Our objective was to measure the percentage of patients in the Netherlands who regretted their decision to start dialysis. METHODS: Cross-sectional Dutch national survey of dialysis patients...
July 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28741410/how-can-precision-medicine-be-applied-to-temporomandibular-disorders-and-its-comorbidities
#17
Joan B Wilentz, Allen W Cowley
The Eighth Scientific Meeting of The TMJ Association, Ltd. was held in Bethesda, Maryland, September 11-13, 2016. As in the past, the meeting was cosponsored by components of the National Institutes of Health with speakers invited to review the state of temporomandibular disorder science and propose recommendations to further progress. The theme of precision medicine, which aims to tailor disease treatment and prevention to match the characteristics of an individual patient (genetic, epigenetic, environmental, lifestyle) underscored the current consensus that temporomandibular disorders are no longer viewed as local conditions of jaw pain and dysfunction...
January 2017: Molecular Pain
https://www.readbyqxmd.com/read/28741261/hereditary-breast-cancer-associated-with-cowden-syndrome-related-pten-mutation-with-lhermitte-duclos-disease
#18
Fuyo Kimura, Ai Ueda, Eiichi Sato, Jiro Akimoto, Hiroshi Kaise, Kimito Yamada, Mari Hosonaga, Yuko Kawai, Saeko Teraoka, Miki Okazaki, Takashi Ishikawa
BACKGROUND: Cowden syndrome is characterized by multiple hamartomas in various tissues, including the skin, brain, breast, thyroid, mucous membrane, and gastrointestinal tract, and is reported to increase the risk of malignant disease. CASE PRESENTATION: We describe the case of a 52-year-old woman in whom a tumor was diagnosed in the left cerebellar hemisphere and treated by surgical resection. Phosphatase and tensin homolog (PTEN) mutation in exon 8 insertion was found in the brain tumor tissue and leukocytes...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28741180/loss-of-nhej1-protein-due-to-a-novel-splice-site-mutation-in-a-family-presenting-with-combined-immunodeficiency-microcephaly-and-growth-retardation-and-literature-review
#19
Farrukh Sheikh, Abbas Hawwari, Safa Alhissi, Sulaiman Al Gazlan, Hasan Al Dhekri, Agha M Rehan Khaliq, Esteban Borrero, Lina El-Baik, Rand Arnaout, Hamoud Al-Mousa, Anas M Alazami
INTRODUCTION: Non-homologous end joining gene 1 (NHEJ1) defect is a rare form of primary immune deficiency. Very few cases have been described from around the world. PURPOSE: We are reporting the first family from the Arabian Gulf with three siblings presenting with combined immunodeficiency (CID), microcephaly, and growth retardation due to a novel NHEJ1 splice site mutation, in addition to a review of the previously published literature on this subject. METHODS: Patients' clinical, immunological, and laboratory features were examined...
July 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28741098/regulation-of-paclitaxel-activity-by-microtubule-associated-proteins-in-cancer-chemotherapy
#20
REVIEW
Xingjuan Shi, Xiaoou Sun
Microtubules, highly dynamic components of the cytoskeleton, participate in diverse cellular activities such as mitosis, cell migration, and intracellular trafficking. Dysregulation of microtubule dynamics contributes to the development of serious diseases, including cancer. The dynamic properties and functions of microtubule network are regulated by microtubule-associated proteins. Paclitaxel, an anti-microtubule agent of the taxane family, has shown a success in clinical treatment of many cancer patients...
July 24, 2017: Cancer Chemotherapy and Pharmacology
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