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https://www.readbyqxmd.com/read/29245125/delayed-type-hypersensitivity-to-metals-in-connective-tissue-diseases-and-fibromyalgia
#1
REVIEW
Geir Bjørklund, Maryam Dadar, Jan Aaseth
Rheumatic diseases include a group of autoimmune disorders with environmental and genetic etiology that are characterized as a subgroup of connective tissue diseases (CTD). Rheumatoid arthritis (RA) often involves the small joints of the hands in a symmetrical fashion that can lead to loss of joint function, and RA, as well as Sjögren's syndrome (SS) and other rheumatic diseases, are often accompanied by sensitivity to metals. Numerous investigations on metal sensitivity were evaluated in this review. A detailed metal exposure history was collected by different evaluation of studies...
December 12, 2017: Environmental Research
https://www.readbyqxmd.com/read/29245109/autosomal-recessive-hypercholesterolemia-in-spain
#2
Rosa María Sánchez-Hernández, Pablo Prieto-Matos, Fernando Civeira, Eduardo Esteve Lafuente, Manuel Frías Vargas, José T Real, Fernando Goñi Goicoechea, Francisco J Fuentes, Miguel Pocovi, Mauro Boronat, Ana María Wägner, Luis Masana
BACKGROUND AND AIMS: Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain. METHODS: Data were collected from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. A literature search was performed up to June 2017, and all diagnostic genetic studies for familial hypercholesterolemia of Spain were reviewed...
December 6, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29244800/hla-dq-genetics-in-children-with-celiac-disease-a-meta-analysis-suggesting-a-two-step-genetic-screening-procedure-starting-with-hla-dq-%C3%AE-chains
#3
Annalisa De Silvestri, Cristina Capittini, Dimitri Poddighe, Chiara Valsecchi, Gianluigi Marseglia, Sara Carlotta Tagliacarne, Valeria Scotti, Chiara Rebuffi, Annamaria Pasi, Miryam Martinetti, Carmine Tinelli
OBJECTIVES: through a meta-analysis, evaluating the distribution of the predisposing HLA genotype to Celiac Disease (CD) in children and providing insights for potential widened screening strategy. STUDY DESIGN: After a systematic search on the association between HLA class II and CD in children, 46 publications were obtained and assessed for eligibility. 13 eligible studies were submitted to data extraction and analysis (10 studies case-control and 3 cohort studies)...
December 15, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29244787/loss-of-podocalyxin-causes-a-novel-syndromic-type-of-congenital-nephrotic-syndrome
#4
Hee Gyung Kang, Moses Lee, Kyoung Boon Lee, Michael Hughes, Bo Sang Kwon, Sangmoon Lee, Kelly M McNagny, Yo Han Ahn, Jung Min Ko, Il-Soo Ha, Murim Choi, Hae Il Cheong
Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number of surface proteins, such as nephrin, podocin, podocalyxin and CD2AP. Here we report a human patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL, which encodes podocalyxin, inherited from each parent...
December 15, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29244742/fibrinogen-gamma-chain-mutations-provoke-fibrinogen-and-apolipoprotein-b-plasma-deficiency-and-liver-storage
#5
Francesco Callea, Isabella Giovannoni, Sinan Sari, Esendagli Guldal, Buket Dalgic, Gulen Akyol, Tsuyoshi Sogo, Abdulrahman Al-Hussaini, Giuseppe Maggiore, Andrea Bartuli, Renata Boldrini, Paola Francalanci, Emanuele Bellacchio
p.R375W (Fibrinogen Aguadilla) is one out of seven identified mutations (Brescia, Aguadilla, Angers, Al du Pont, Pisa, Beograd, and Ankara) causing hepatic storage of the mutant fibrinogen γ. The Aguadilla mutation has been reported in children from the Caribbean, Europe, Japan, Saudi Arabia, Turkey, and China. All reported children presented with a variable degree of histologically proven chronic liver disease and low plasma fibrinogen levels. In addition, one Japanese and one Turkish child had concomitant hypo-APOB-lipoproteinemia of unknown origin...
December 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29244212/detection-of-enteric-and-non-enteric-adenoviruses-in-gastroenteritis-patients-bangladesh-2012-2015
#6
Mokibul Hassan Afrad, Tasnuva Avzun, Jahurul Haque, Warda Haque, Mohammad Enayet Hossain, Afm Rajibur Rahman, Shahnawaz Ahmed, Abu Syed Golam Faruque, Mohammed Ziaur Rahman, Mustafizur Rahman
BACKGROUND: Human adenoviruses (HAdVs) are common cause of nonbacterial acute gastroenteritis worldwide. Limited data exist on HAdVs molecular epidemiology associated with acute gastroenteritis in Bangladesh. OBJECTIVE: We describe the genetic diversity and epidemiology of HAdVs among hospitalized diarrhea patients, including HAdV genotypes, clinical symptoms and co-infecting enteric pathogens. STUDY DESIGN: Stool samples were collected from ongoing diarrhea surveillance during 2012-2015...
December 15, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/29244185/loss-of-imprinting-mutations-define-both-distinct-and-overlapping-roles-for-misexpression-of-igf2-and-of-h19-lncrna
#7
Ki-Sun Park, Apratim Mitra, Beenish Rahat, Keekwang Kim, Karl Pfeifer
Imprinted genes occur in discrete clusters that are coordinately regulated by shared DNA elements called Imprinting Control Regions. H19 and Igf2 are linked imprinted genes that play critical roles in development. Loss of imprinting (LOI) at the IGF2/H19 locus on the maternal chromosome is associated with the developmental disorder Beckwith Wiedemann Syndrome (BWS) and with several cancers. Here we use comprehensive genetic and genomic analyses to follow muscle development in a mouse model of BWS to dissect the separate and shared roles for misexpression of Igf2 and H19 in the disease phenotype...
December 15, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29244152/regulation-of-t-cell-proliferation-with-drug-responsive-microrna-switches
#8
Remus S Wong, Yvonne Y Chen, Christina D Smolke
As molecular and cellular therapies advance in the clinic, the role of genetic regulation is becoming increasingly important for controlling therapeutic potency and safety. The emerging field of mammalian synthetic biology provides promising tools for the construction of regulatory platforms that can intervene with endogenous pathways and control cell behavior. Recent work has highlighted the development of synthetic biological systems that integrate sensing of molecular signals to regulated therapeutic function in various disease settings...
December 13, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29244005/ghost-global-hepatitis-outbreak-and-surveillance-technology
#9
Atkinson G Longmire, Seth Sims, Inna Rytsareva, David S Campo, Pavel Skums, Zoya Dimitrova, Sumathi Ramachandran, Magdalena Medrzycki, Hong Thai, Lilia Ganova-Raeva, Yulin Lin, Lili T Punkova, Amanda Sue, Massimo Mirabito, Silver Wang, Robin Tracy, Victor Bolet, Thom Sukalac, Chris Lynberg, Yury Khudyakov
BACKGROUND: Hepatitis C is a major public health problem in the United States and worldwide. Outbreaks of hepatitis C virus (HCV) infections associated with unsafe injection practices, drug diversion, and other exposures to blood are difficult to detect and investigate. Effective HCV outbreak investigation requires comprehensive surveillance and robust case investigation. We previously developed and validated a methodology for the rapid and cost-effective identification of HCV transmission clusters...
December 6, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29243911/neurodegenerative-disease-proteinopathies-are-connected-to-distinct-histone-post-translational-modification-landscapes
#10
Karen Chen, Seth A Bennett, Navin Rana, Huda Yousuf, Mohamed Said, Sadiqa Taaseen, Natalie Mendo, Steven Marc Meltser, Mariana Torrente
Amyotrophic Lateral Sclerosis (ALS) and Parkinson's disease (PD) are devastating neurodegenerative diseases involving the progressive degeneration of neurons. No cure is available for patients diagnosed with these diseases. A prominent feature for both ALS and PD is the accumulation of protein inclusions in the cytoplasm of degenerating neurons; however, the particular protein comprising these inclusions varies. The RNA-binding proteins TDP-43 and FUS are most notable in ALS, while α-synuclein aggregates into Lewy bodies in PD...
December 15, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29243873/a-comprehensive-review-of-genetic-and-epigenetic-mechanisms-that-regulate-bdnf-expression-and-function-with-relevance-to-major-depressive-disorder
#11
REVIEW
Benjamin Hing, Leela Sathyaputri, James B Potash
Major depressive disorder (MDD) is a mood disorder that affects behavior and impairs cognition. A gene potentially important to this disorder is the brain derived neurotrophic factor (BDNF) as it is involved in processes controlling neuroplasticity. Various mechanisms exist to regulate BDNF's expression level, subcellular localization, and sorting to appropriate secretory pathways. Alterations to these processes by genetic factors and negative stressors can dysregulate its expression, with possible implications for MDD...
December 15, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29243845/fc%C3%AE%C2%B5r1%C3%AE-gene-polymorphism-shows-association-with-high-ige-and-anti-fc%C3%AE%C2%B5r1%C3%AE-in-chronic-rhinosinusitis-with-nasal-polyposis
#12
Sajad Ahmad Dar, Gargi Rai, Mohammad Ahmed Ansari, Naseem Akhter, Neelima Gupta, Sonal Sharma, Shafiul Haque, Vishnampettai Ganapathysubramanian Ramachandran, Mohd Wahid, M Rudramurthy Shivprakash, Arunaloke Chakrabarti, Shukla Das
Despite large number of investigations, the etiology of chronic rhinosinusitis (CRS) remains unclear. Several factors are likely involved in its onset. The genetic susceptibility of IgE-responsiveness likely caused by polymorphism(s) in high affinity receptor for IgE (FcεR1α) gene can help in understanding the pathophysiology of CRS with nasal polyposis (CRSwNP). A population-based case-control association analysis was conducted to assess the risk of CRSwNP conferred by single nucleotide polymorphisms (SNPs) in FcεR1α gene in a North Indian cohort...
December 15, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29243812/dysregulated-mitogen-activated-protein-kinase-signalling-as-an-oncogenic-basis-for-clear-cell-sarcoma-of-the-kidney
#13
Colin Kenny, Naomi McDonagh, Antonio Lazaro, Elaine O'Meara, Rut Klinger, Darran O'Connor, Fiona Roche, Karsten Hokamp, Maureen J O'Sullivan
The oncogenic mechanisms and tumour biology underpinning Clear Cell Sarcoma of Kidney (CCSK), the second commonest paediatric renal malignancy, are poorly understood and currently therapy depends heavily on doxorubicin with cardiotoxic side-effects. Previously, we characterised the balanced t(10;17)(q22;p13) chromosomal translocation, identified at that time as the only recurrent genetic aberration in CCSK. This translocation results in an in-frame fusion of the genes YWHAE (encoding 14-3-3ε)and NUTM2, with a somatic incidence of 12%...
December 15, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/29243741/impact-of-copy-neutral-loss-of-heterozygosity-and-total-genome-aberrations-on-survival-in-myelodysplastic-syndrome
#14
Cecilia C S Yeung, Scott McElhone, Xue Yan Chen, David Ng, Barry E Storer, H Joachim Deeg, Min Fang
Myelodysplastic syndromes (MDS) are a heterogeneous group of diseases with varying genetic aberrations. Half of MDS patients have normal karyotype, obscuring the underlying condition indicating a need for new markers for improved diagnostics and prognosis. We performed a retrospective review of sequential MDS patients who underwent chromosomal genetic array testing (CGAT) between November 2008 and March 2014. Total Genomic Aberration (TGA) scores, with and without copy-neutral loss of heterozygosity (cnLOH), were compared to pathology and clinical data...
December 15, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29243736/a-novel-missense-mutation-in-hsf4-causes-autosomal-dominant-congenital-lamellar-cataract-in-a-british-family
#15
V Berry, N Pontikos, A Moore, A C W Ionides, V Plagnol, M E Cheetham, M Michaelides
PurposeInherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of isolated autosomal-dominant lamellar cataract in a five-generation British family.MethodsWhole exome sequencing (WES) was performed on two affected individuals of the family and further validated by direct sequencing in family members.ResultsA novel missense mutation NM_001040667.2:c.190A>G;p.K64E was identified in the DNA-binding-domain of heat-shock transcription factor 4 (HSF4) and found to co-segregate with disease...
December 15, 2017: Eye
https://www.readbyqxmd.com/read/29243553/disease-modeling-studies-using-induced-pluripotent-stem-cells-are-we-using-enough-controls
#16
Adiv A Johnson, Cynthia Andrews-Pfannkoch, Timothy J Nelson, Jose S Pulido, Alan D Marmorstein
The comparison of differentiated induced pluripotent stem cells (iPSCs) derived from patients with disease to differentiated iPSCs derived from healthy patients enables powerful disease modeling. By performing an informal retrospective survey of disease modeling studies published in high impact journals, we found that the median and average number of controls used in these studies were 1 and 1.6, respectively. The bulk of these studies did not control for age, gender and ethnicity. Since a large proportion of phenotypic differences observed between iPSC lines are due to genetic variation or variation between lines, this is an insufficient number of controls to confidently rule out standard variation...
December 15, 2017: Regenerative Medicine
https://www.readbyqxmd.com/read/29243459/adrenomyeloneuropathy-due-to-mutation-in-the-abcd1-gene-as-underlying-factor-in-spastic-paraparesis
#17
Emil Ylikallio, Elisa Rahikkala, Riikka Keski-Filppula, Mari Auranen, Henna Tyynismaa
We present a Finnish family in which adrenomyeloneuropathy (AMN) caused by the mutation in the ABCD1 gene was revealed as the cause of spastic paraparesis. . Two patients had hypoadrenalism, which is in some cases some associated with the disease . AMN is a hereditary disease manifested both in men and women. but owing to the location of the gene in the X chromosome the symptoms are usually more severe in male patients. . Diagnoses was trucked down with gene-panel sequencing and confirmed through detection of an elevated level of very long-chain fatty acids in the serum of the patients...
2017: Duodecim; Lääketieteellinen Aikakauskirja
https://www.readbyqxmd.com/read/29243324/validation-of-histone-deacetylase-3-as-a-therapeutic-target-in-castration-resistant-prostate-cancer
#18
Abigail B McLeod, James P Stice, Suzanne E Wardell, Holly M Alley, Ching-Yi Chang, Donald P McDonnell
BACKGROUND: Whereas the androgen receptor (AR) signaling axis remains a therapeutic target in castration-resistant prostate cancer (CRPC), the emergence of AR mutations and splice variants as mechanisms underlying resistance to contemporary inhibitors of this pathway highlights the need for new therapeutic approaches to target this disease. Of significance in this regard is the considerable preclinical data, indicating that histone deacetylase (HDAC) inhibitors may have utility in the treatment of CRPC...
December 15, 2017: Prostate
https://www.readbyqxmd.com/read/29243279/the-mito-mkate2-mouse-a-far-red-fluorescent-reporter-mouse-line-for-tracking-mitochondrial-dynamics-in-vivo
#19
Anthony P Barrasso, Xuefei Tong, Ross A Poché
Mitochondria are incredibly dynamic organelles that undergo continuous fission and fusion events to control morphology, which profoundly impacts cell physiology including cell cycle progression (Mitra, 2013; Mitra et al., 2009). This is highlighted by the fact that most major human neurodegenerative diseases are due to specific disruptions in mitochondrial fission or fusion machinery and null alleles of these genes result in embryonic lethality (Chan, 2006; Chen et al., 2017; Flippo and Strack, 2017). To gain a better understanding of the pathophysiology of such disorders, tools for the in vivo assessment of mitochondrial dynamics are required...
December 15, 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/29243212/controlling-centriole-numbers-geminin-family-members-as-master-regulators-of-centriole-amplification-and-multiciliogenesis
#20
REVIEW
Marina Arbi, Dafni-Eleftheria Pefani, Stavros Taraviras, Zoi Lygerou
To ensure that the genetic material is accurately passed down to daughter cells during mitosis, dividing cells must duplicate their chromosomes and centrosomes once and only once per cell cycle. The same key steps-licensing, duplication, and segregation-control both the chromosome and the centrosome cycle, which must occur in concert to safeguard genome integrity. Aberrations in genome content or centrosome numbers lead to genomic instability and are linked to tumorigenesis. Such aberrations, however, can also be part of the normal life cycle of specific cell types...
December 14, 2017: Chromosoma
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