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https://www.readbyqxmd.com/read/29161780/assessment-of-relationship-of-abo-blood-groups-among-tobacco-induced-oral-cancer-patients-of-kanpur-population-uttar-pradesh
#1
Gayathri Ramesh, Anuradha Katiyar, Amrita Raj, Amit Kumar, Ramesh Nagarajappa, Amit Pandey
Background: The possibility of association between ABO blood groups and malignancy was first discussed by Anderson DE & Haas C. The association between blood group and oral cancer is least explored and hence this study was undertaken to evaluate relationship of ABO blood groups with an increased risk for oral cancer. Materials and method: The present study was conducted at various cancer hospitals in Kanpur. The study samples comprised 100 oral cancer patients and 50 controls with tobacco chewing habit...
November 2017: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/29161709/impact-of-local-and-systemic-factors-on-kidney-dysfunction-in-bardet-biedl-syndrome
#2
Miriam Zacchia, Giovanna Capolongo, Francesco Trepiccione, Vincent Marion
Bardet Biedl syndrome (BBS) is a rare inherited syndromic condition characterized by renal and extra-renal disorders. Renal defect, at either structural or functional level, is one of the cardinal clinical features, and is a major cause of morbidity. However, the pathogenic mechanism underlying its dysfunction remains largely unknown, and to date only symptomatic treatment with no specific therapy is available for these patients. Elucidating aberrant cellular and/or systemic processes that impact kidney function is therefore a prerequisite to develop targeted innovative therapeutic strategies for the BBS patients...
November 21, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29161289/mitochondrial-dna-sequence-context-in-the-penetrance-of-mitochondrial-t-rna-mutations-a-study-across-multiple-lineages-with-diagnostic-implications
#3
Rachel A Queen, Jannetta S Steyn, Phillip Lord, Joanna L Elson
Mitochondrial DNA (mtDNA) mutations are well recognized as an important cause of inherited disease. Diseases caused by mtDNA mutations exhibit a high degree of clinical heterogeneity with a complex genotype-phenotype relationship, with many such mutations exhibiting incomplete penetrance. There is evidence that the spectrum of mutations causing mitochondrial disease might differ between different mitochondrial lineages (haplogroups) seen in different global populations. This would point to the importance of sequence context in the expression of mutations...
2017: PloS One
https://www.readbyqxmd.com/read/29161206/a-hypersensitivity-like-response-to-meloidogyne-graminicola-in-rice-oryza-sativa-l
#4
Ngan Thi Phan, Dirk De Waele, Mathias Lorieux, Lizhong Xiong, Stephane Bellafiore
Meloidogyne graminicola (M. graminicola) is a major plant-parasitic nematode affecting rice cultivation in Asia. Resistance to this nematode was found in the African rice genotypes Oryza glaberrima and O. longistaminata, however, due to interspecific hybrid sterility, the introgression of resistance genes in the widely consumed O. sativa varieties remains challenging. Recently, resistance was found in O. sativa and here we report for the first time the histological and genetic characterization of the resistance to M...
November 21, 2017: Phytopathology
https://www.readbyqxmd.com/read/29160406/cheiloscopic-study-among-monozygotic-twins-non-twin-brothers-and-non-relative-individuals
#5
Larissa Chaves Cardoso Fernandes, Julyana de Araújo Oliveira, Bianca Marques Santiago, Patrícia Moreira Rabello, Marcus Vitor Diniz de Carvalho, Reginaldo Inojosa Carneiro Campello, Evelyne Pessoa Soriano
This study aimed to investigate cheiloscopic patterns among monozygotic twins (MT), non-twin siblings (NTS) and unrelated individuals (UI). The sample consisted of 20 pairs of monozygotic twins (G1), 20 pairs of non-twin siblings (G2) and 20 pairs of unrelated individuals (G3). Lip thickness, commissures and grooves were evaluated and the latter were classified as: I - clear-cut vertical grooves; I' - incomplete vertical grooves; II - branched grooves; III - intersecting; IV - reticular grooves and V - undetermined, in 8 labial regions (sub-quadrants)...
July 2017: Brazilian Dental Journal
https://www.readbyqxmd.com/read/29160179/the-miage-calculator-a-dna-methylation-based-mitotic-age-calculator-of-human-tissue-types
#6
Ahrim Youn, Shuang Wang
Cell division is important in human aging and cancer. To estimate the number of cell divisions (mitotic age) of a given tissue type between individuals is of great interest as that not only allows to study biological aging using a new molecular aging target but also allows the stratification of prospective cancer risk. Here we introduce the MiAge Calculator, a mitotic age calculator based on a novel statistical framework, the MiAge model. MiAge is designed to quantitatively estimate mitotic age (total number of lifetime cell divisions) of a tissue using the stochastic replication errors accumulated in the epigenetic inheritance process during cell divisions...
November 21, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/29160116/assessment-of-aav-serotype-tropism-in-human-retinal-explants
#7
Luke Aaron Wiley, Erin Burnight, Emily E Kaalberg, Chunhua Jiao, Megan J Riker, Jennifer A Halder, Meagan A Luse, Ian C Han, Stephen R Russell, Elliott H Sohn, Edwin Stone, Budd A Tucker, Robert F Mullins
Advances in the discovery of the causes of monogenic retinal disorders, combined with technologies for the delivery of DNA to the retina, offer enormous opportunities for the treatment of previously untreatable blinding diseases. However, for gene augmentation to be most effective, vectors that have the correct cell-type specificity are needed. While animal models are very useful, they often exhibit differences in retinal cell surface receptors compared to human retina. In this study, we evaluated the use of an ex vivo organotypic explant system to test the transduction efficiency and tropism of 7 different adeno-associated viral type 2 (AAV2) serotypes in human retina and retinal pigment epithelium-choroid: AAV2/1, AAV2/2, AAV2/4, AAV2/5, AAV2/6, AAV2/8, and AAV2/9, all driving expression of GFP under control of the cytomegalovirus promoter...
November 21, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/29160035/mosaic-uniparental-disomy-results-in-gm1-gangliosidosis-with-normal-enzyme-assay
#8
Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer
Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by homozygous GLB1 mutations, resulting in β-galactosidase deficiency. A 10-year-old girl had progressive neurologic deterioration, macular cherry-red spot, and cornea verticillata...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29160031/maternal-inheritance-of-bdnf-deletion-with-phenotype-of-obesity-and-developmental-delay-in-mother-and-child
#9
Brooke E Harcourt, Denise V R Bullen, Kung-Ting Kao, Daniella Tassoni, Erin J Alexander, Trent Burgess, Susan M White, Matthew A Sabin
Childhood obesity is a significant world health problem. Understanding the genetic and environmental factors contributing to the development of obesity in childhood is important for the rational design of strategies for obesity prevention and treatment. Brain-derived neurotrophic factor (BDNF) plays an important role in the growth and development of the central nervous system, there is also an evidence that BDNF plays a role in regulation of appetite. Disruption of the expression of this gene in a child has been previously reported to result in a phenotype of severe obesity, hyperphagia, impaired cognitive function, and hyperactivity...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29160004/urological-dysfunction-in-young-women-an-inheritance-of-childhood
#10
Elisabetta Costantini, Ester Illiano, Konstantinos Giannitsas, Marco Prestipino, Antonio Luigi Pastore, Antonio Carbone, Giovanni Palleschi, Raffaele Balsamo, Franca Natale, Donata Villari, Vittorio Bini, Serena Maruccia, Maria-Teresa Filocamo, Alessandro Zucchi
OBJECTIVE: To investigate the correlation of a history of lower urinary tract symptomatology during childhood to lower urinary tract dysfunction in young adult women. SUBJECTS/PATIENTS AND METHODS: This was a multicenter, prospective, case-control study conducted from April 2013 to November 2015. The trial was registered in ClinicalTrials. gov (NCT02185287). Three-hundred women, 18 to 40 years old, participated. Cases were women attending urogynecology clinics for various lower urinary tract complaints and controls were recruited from a healthy population...
November 21, 2017: BJU International
https://www.readbyqxmd.com/read/29159928/the-immunogenetics-of-neurological-disease
#11
REVIEW
Maneesh K Misra, Vincent Damotte, Jill A Hollenbach
Genes encoding antigen-presenting molecules within the human major histocompatibility complex (MHC) account for the highest component of genetic risk for many neurological diseases, such as multiple sclerosis, neuromyelitis optica, Parkinson's disease, Alzheimer's disease, schizophrenia, myasthenia gravis and amyotrophic lateral sclerosis. Myriad genetic, immunological and environmental factors may contribute to an individual's susceptibility to neurological disease. Here, we review and discuss the decades long research on the influence of genetic variation at the MHC locus and the role of immunogenetic killer cell immunoglobulin-like receptor (KIR) loci in neurological diseases, including multiple sclerosis, neuromyelitis optica, Parkinson's disease, Alzheimer's disease, schizophrenia, myasthenia gravis and amyotrophic lateral sclerosis...
November 21, 2017: Immunology
https://www.readbyqxmd.com/read/29159868/tarsal-carpal-coalition-syndrome-report-of-a-novel-missense-mutation-in-nog-gene-and-phenotypic-delineation
#12
Aneek Das Bhowmik, Vijayalakshmi Salem Ramakumaran, Ashwin Dalal
We report a family of Indian origin presenting with Tarsal-carpal coalition syndrome (TCC), which is a rare genetic disorder of skeletal abnormalities, inherited in autosomal dominant manner. In this family, three individuals (mother and two children) were found to be similarly affected with slight intrafamilial individual variability in the phenotype. Sanger sequencing revealed a novel heterozygous missense mutation in NOG gene (NM_005450.4:c.611G>A) in all the affected individuals of the family. Until now only six mutations have been reported in different families affected with TCC syndrome worldwide...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159826/pharmacological-and-molecular-approaches-for-the-treatment-of-%C3%AE-hemoglobin-disorders
#13
REVIEW
Neelam Lohani, Nupur Bhargava, Anjana Munshi, Sivaprakash Ramalingam
β-hemoglobin disorders, such as β-thalassemia and sickle cell anemia are among the most prevalent inherited genetic disorders worldwide. These disorders are caused by mutations in the gene encoding hemoglobin-β (HBB), a vital protein found in red blood cells (RBCs) that carries oxygen from lungs to all parts of the human body. As a consequence, there has been an enduring interest in this field in formulating therapeutic strategies for the treatment of these diseases. Currently, there is no cure available for hemoglobin disorders, although, some patients have been treated with bone marrow transplantation, whose scope is limited because of the difficulty in finding a histocompatible donor and also due to transplant-associated clinical complications that can arise during the treatment...
November 20, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29159733/management-of-hemophilia-in-older-patients
#14
REVIEW
Massimo Franchini, Pier Mannuccio Mannucci
In recent decades, several improvements in hemophilia care have resulted in increased quality of life and life expectancy for those affected by this inherited hemorrhagic condition. Nowadays, individuals with hemophilia enjoy a life expectancy at birth close to that of males in the general population. As a consequence of the increasing age of the hemophilia population, a growing number of these patients develop age-related co-morbidities, such as cardiovascular disease and cancer, the management of which represents a new challenge for caregivers at hemophilia treatment centers...
November 20, 2017: Drugs & Aging
https://www.readbyqxmd.com/read/29159724/turkish-case-of-ethylmalonic-encephalopathy-misdiagnosed-as-short-chain-acyl-coa-dehydrogenase-deficiency
#15
Fatma Derya Bulut, Deniz Kör, Berna Şeker-Yılmaz, Gülen Gül-Mert, Sebile Kılavuz, Neslihan Önenli-Mungan
Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.
November 20, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29159707/propionyl-coa-carboxylase-pcca-1-and-pccb-1-gene-deletions-in-caenorhabditis-elegans-globally-impair-mitochondrial-energy-metabolism
#16
Kimberly A Chapman, Julian Ostrovsky, Meera Rao, Stephen D Dingley, Erzsebet Polyak, Marc Yudkoff, Rui Xiao, Michael J Bennett, Marni J Falk
Propionic acidemia (PA) is a classical inborn error of metabolism with high morbidity that results from the inability of the propionyl-CoA carboxylase (PCC) enzyme to convert propionyl-CoA to methylmalonyl-CoA. PA is inherited in an autosomal recessive fashion due to functional loss of both alleles of either PCCA or PCCB. These genes are highly conserved across evolutionarily diverse species and share extensive similarity with pcca-1 and pccb-1 in the nematode, Caenorhabditis elegans. Here, we report the global metabolic effects of deletion in a single PCC gene, either pcca-1 or pccb-1, in C...
November 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29159460/compound-heterozygous-inheritance-of-mutations-in-coenzyme-q8a-results-in-autosomal-recessive-cerebellar-ataxia-and-coenzyme-q10-deficiency-in-a-female-sib-pair
#17
Jessie C Jacobsen, Whitney Whitford, Brendan Swan, Juliet Taylor, Donald R Love, Rosamund Hill, Sarah Molyneux, Peter M George, Richard Mackay, Stephen P Robertson, Russell G Snell, Klaus Lehnert
Autosomal recessive ataxias are characterised by a fundamental loss in coordination of gait with associated atrophy of the cerebellum. There is significant clinical and genetic heterogeneity amongst inherited ataxias; however, an early molecular diagnosis is essential with low-risk treatments available for some of these conditions. We describe two female siblings who presented early in life with unsteady gait and cerebellar atrophy. Whole exome sequencing revealed compound heterozygous inheritance of two pathogenic mutations (p...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#18
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159446/reflecting-before-testing-comment-on-personal-genomic-testing-genetic-inheritance-and-uncertainty
#19
Jacqueline Savard
This response is a comment on the case of Jordan presented by Mason (2017). A key perspective we can take from this case is a consideration of: consumer motivations for testing, whether they have enough information and time to make a decision, and if the test they seek is entirely appropriate for them at their current stage of life.
November 20, 2017: Journal of Bioethical Inquiry
https://www.readbyqxmd.com/read/29159138/paternal-inheritance-of-plastid-encoded-transgenes-in-petunia-hybrida-in-the-greenhouse-and-under-field-conditions
#20
Patricia Horn, Henrik Nausch, Susanne Baars, Jörg Schmidtke, Kerstin Schmidt, Inge Broer
As already demonstrated in greenhouse trials, outcrossing of transgenic plants can be drastically reduced via transgene integration into the plastid. We verified this result in the field with Petunia, for which the highest paternal leakage has been observed. The variety white 115 (W115) served as recipient and Pink Wave (PW) and the transplastomic variant PW T16, encoding the uidA reporter gene, as pollen donor. While manual pollination in the greenhouse led to over 90% hybrids for both crossings, the transgenic donor resulted only in 2% hybrids in the field...
December 2017: Biotechnology Reports
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