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inheritance of blood types

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https://www.readbyqxmd.com/read/29760648/profile-of-arachidonic-acid-derived-inflammatory-markers-and-its-modulation-by-nitro-oleic-acid-in-an-inherited-model-of-amyotrophic-lateral-sclerosis
#1
Andrés Trostchansky, Mauricio Mastrogiovanni, Ernesto Miquel, Sebastián Rodríguez-Bottero, Laura Martínez-Palma, Patricia Cassina, Homero Rubbo
The lack of current treatments for amyotrophic lateral sclerosis (ALS) highlights the need of a comprehensive understanding of the biological mechanisms of the disease. A consistent neuropathological feature of ALS is the extensive inflammation around motor neurons and axonal degeneration, evidenced by accumulation of reactive astrocytes and activated microglia. Final products of inflammatory processes may be detected as a screening tool to identify treatment response. Herein, we focus on (a) detection of arachidonic acid (AA) metabolization products by lipoxygenase (LOX) and prostaglandin endoperoxide H synthase in SOD1G93A mice and (b) evaluate its response to the electrophilic nitro-oleic acid (NO2 -OA)...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29745997/efficacy-of-human-placental-derived-stem-cells-in-collagen-vii-knockout-recessive-dystrophic-epidermolysis-bullosa-animal-model
#2
Yanling Liao, Larisa Ivanova, Rajarajeswari Sivalenka, Trevor Plumer, Hongwen Zhu, Xiaokui Zhang, Angela M Christiano, John A McGrath, Jodi P Gurney, Mitchell S Cairo
Recessive dystrophic epidermolysis bullosa (RDEB) is a devastating inherited skin blistering disease caused by mutations in the COL7A1 gene that encodes type VII collagen (C7), a major structural component of anchoring fibrils at the dermal-epidermal junction (DEJ). We recently demonstrated that human cord blood-derived unrestricted somatic stem cells promote wound healing and ameliorate the blistering phenotype in a RDEB (col7a1-/- ) mouse model. Here, we demonstrate significant therapeutic effect of a further novel stem cell product in RDEB, that is, human placental-derived stem cells (HPDSCs), currently being used as human leukocyte antigen-independent donor cells with allogeneic umbilical cord blood stem cell transplantation in patients with malignant and nonmalignant diseases...
May 10, 2018: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/29741259/primary-red-cell-hydration-disorders-pathogenesis-and-diagnosis
#3
A Caulier, R Rapetti-Mauss, H Guizouarn, V Picard, L Garçon, C Badens
Hydration status is critical for erythrocyte survival and is mainly determined by intracellular cation content. Active pumps, passive transporters, and ion channels are the key components of volume homeostasis, whereas water passively fits ionic movements. Whenever cation content increases, erythrocyte swells, whereas it shrinks when cation content decreases. Thus, inappropriate cation leak causes erythrocyte hydration disorders, hemolytic anemia, and characteristic red cell shape abnormalities named stomatocytosis...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29731767/whole-exome-sequencing-identified-a-novel-heterozygous-mutation-in-hmbs-gene-in-a-chinese-patient-with-acute-intermittent-porphyria-with-rare-type-of-mild-anemia
#4
Yongjiang Zheng, Jiehua Xu, Shengran Liang, Dongjun Lin, Santasree Banerjee
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP. Mutation of HMBS gene results into the partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase. AIP is clinically manifested with abdominal pain, vomiting, and neurological complaints. Additionally, an extreme phenotypic heterogeneity has been reported in AIP patients with mutations in HMBS gene. Here, we investigated a Chinese patient with AIP...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29725435/uncovering-the-heterogeneous-genetic-variations-in-two-insulin-expressing-tumors-in-a-patient-with-men1
#5
Zai Wang, Liguo Liu, Jie Luo, Jing Guo, Min Zhai, Wenjian Zhang, Zhiying Yang
Multiple endocrine neoplasia type 1 (MEN1) is associated with a heterozygous inherited mutation of the menin 1 ( MEN1 ) gene; however, the molecular pathogenesis remains to be fully elucidated. In the present study, whole exome sequencing was performed on two pancreatic neuroendocrine tumors (PNETs), termed T1 and T2, peri-tumoral tissue (PT) and a blood sample obtained from a patient with MEN1. The cells in T1 and T2, but not PT, showed loss of chromosome 11 where MEN1 was located, confirming that the loss of heterozygosity (LOH) of MEN1 was a crucial event in tumorigenesis...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29723117/hereditary-xanthinuria-is-not-so-rare-disorder-of-purine-metabolism
#6
I Sebesta, B Stiburkova, J Krijt
Hereditary xanthinuria (type I) is caused by an inherited deficiency of the xanthine oxidorectase (XDH/XO), and is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine, leading to urolithiasis. Type II results from a combined deficiency of XDH/XO and aldehyde oxidase. Patients present with hematuria, renal colic, urolithiasis or even acute renal failure. Clinical symptoms are the same for both types. In a third type, clinically distinct, sulfite oxidase activity is missing as well as XDH/XO and aldehyde oxidase...
May 3, 2018: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/29674667/a-mixed-periodic-paralysis-myotonia-mutant-p1158s-imparts-ph-sensitivity-in-skeletal-muscle-voltage-gated-sodium-channels
#7
Mohammad-Reza Ghovanloo, Mena Abdelsayed, Colin H Peters, Peter C Ruben
Skeletal muscle channelopathies, many of which are inherited as autosomal dominant mutations, include myotonia and periodic paralysis. Myotonia is defined by a delayed relaxation after muscular contraction, whereas periodic paralysis is defined by episodic attacks of weakness. One sub-type of periodic paralysis, known as hypokalemic periodic paralysis (hypoPP), is associated with low potassium levels. Interestingly, the P1158S missense mutant, located in the third domain S4-S5 linker of the "skeletal muscle", Nav1...
April 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29669177/mutations-that-alter-the-carboxy-terminal-propeptide-cleavage-site-of-the-chains-of-type-i-procollagen-are-associated-with-a-unique-osteogenesis-imperfecta-phenotype
#8
Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L Duncan, Aideen M McInerney-Leo, Patricia G Wheeler, Paul Roschger, Klaus Klaushofer, Jyoti Rai, MaryAnn Weis, David Eyre, Ulrike Schwarze, Peter H Byers
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. We have assembled clinical, biochemical, and molecular data from 29 individuals from 8 families with 7 different mutations affecting the C-propeptide cleavage site...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29655462/obesity-thrombotic-risk-and-inflammation-in-cancer
#9
Benjamín Rubio-Jurado, Luz-Ma-Adriana Balderas-Peña, Eduardo E García-Luna, María G Zavala-Cerna, Carlos Riebeling-Navarro, Pedro A Reyes, Arnulfo H Nava-Zavala
Neoplasms exhibits a high incidence and mortality rates due to their complex and commonly overlapping clinical, biochemical, and morphologic profiles influenced by acquired or inherited molecular abnormalities, cell of origin, and level of differentiation. Obesity appears related to ~20% of cancers including endometrial, esophageal, colorectal, postmenopausal breast, prostate, and renal. Several factors other than obesity, i.e., insulin, insulin-like growth factor, sexual hormones, and adipokines may play a potential role in neoplasia...
2018: Advances in Clinical Chemistry
https://www.readbyqxmd.com/read/29643536/-genetic-diagnosis-of-caroli-syndrome-with-autosomal-recessive-polycystic-kidney-disease-a-case-report-and-literature-review
#10
X Y Yang, L P Zhu, X Q Liu, C Y Zhang, Y Yao, Y Wu
This case report is about one genetically specified diagnosed infant case of Caroli syndrome with autosomal recessive polycystic kidney disease (ARPKD) in China. The patient in this case report was an eight-month infant boy with an atypical onset and the main clinical manifestation was non-symptomatic enlargement of the liver and kidneys. The imaging study demonstrated a diffused cystic dilatation of intrahepatic bile ducts as well as polycystic changes in bilateral kidneys. The basic blood biochemical tests indicated a normal hepatorenal function...
April 18, 2018: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29623657/a-case-of-primary-familial-congenital-polycythemia-with-a-novel-epor-mutation-possible-spontaneous-remission-alleviation-by-menstrual-bleeding
#11
Naohisa Toriumi, Makoto Kaneda, Naoki Hatakeyama, Hiromi Manabe, Kazuki Okajima, Yukari Sakurai, Masayo Yamamoto, Takeo Sarashina, Katsuya Ikuta, Hiroshi Azuma
A 10-year-old girl with persistent erythrocytosis and ruddy complexion was diagnosed with primary familial congenital polycythemia (PFCP) involving a novel heterozygous mutation of c.1220C>A, p.Ser407X in exon 8 of the erythropoietin receptor gene (EPOR). This mutation causes truncation of EPOR, resulting in loss of the cytoplasmic region, which is necessary for negative regulation of erythropoietin signal transmission. Genetic analysis showed that the mutated EPOR was inherited from her mother. Her mother had polycythemia and had undergone venesection several times when she was young, but her polycythemic state appeared to have resolved...
April 5, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29613853/non-invasive-prenatal-diagnosis-of-paternally-inherited-disorders-from-maternal-plasma-detection-of-nf1-and-cftr-mutations-using-droplet-digital-pcr
#12
Aurélia Gruber, Mathilde Pacault, Laila Allach El Khattabi, Nicolas Vaucouleur, Lucie Orhant, Thierry Bienvenu, Emmanuelle Girodon, Dominique Vidaud, France Leturcq, Catherine Costa, Franck Letourneur, Olivia Anselem, Vassilis Tsatsaris, François Goffinet, Géraldine Viot, Michel Vidaud, Juliette Nectoux
BACKGROUND: To limit risks of miscarriages associated with invasive procedures of current prenatal diagnosis practice, we aim to develop a personalized medicine-based protocol for non-invasive prenatal diagnosis (NIPD) of monogenic disorders relying on the detection of paternally inherited mutations in maternal blood using droplet digital PCR (ddPCR). METHODS: This study included four couples at risk of transmitting paternal neurofibromatosis type 1 (NF1) mutations and four couples at risk of transmitting compound heterozygous CFTR mutations...
April 25, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29582136/unexplained-cardiac-arrest-a-tale-of-conflicting-interpretations-of-kcnq1-genetic-test-results
#13
Han Chow Chua, Helge Servatius, Babken Asatryan, André Schaller, Claudine Rieubland, Fabian Noti, Jens Seiler, Laurent Roten, Samuel H Baldinger, Hildegard Tanner, Juerg Fuhrer, Andreas Haeberlin, Anna Lam, Stephan A Pless, Argelia Medeiros-Domingo
OBJECTIVE: Unexplained cardiac arrest (UCA) is often the first manifestation of an inherited arrhythmogenic disease. Genetic testing in UCA is challenging due to the complexities of variant interpretation in the absence of supporting cardiac phenotype. We aimed to investigate if a KCNQ1 variant [p.(Pro64_Pro70del)], previously reported as pathogenic, contributes to the long-QT syndrome phenotype, co-segregates with disease or affects KCNQ1 function in vitro. METHODS: DNA was extracted from peripheral blood of a 22-year-old male after resuscitation from UCA...
March 26, 2018: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/29568937/genetic-analysis-of-sick-sinus-syndrome-in-a-family-harboring-compound-cacna1c-and-ttn-mutations
#14
Yao-Bin Zhu, Jie-Wei Luo, Fen Jiang, Gui Liu
Sick sinus syndrome (SSS) is a sinus node dysfunction characterized by severe sinus bradycardia. SSS results in insufficient blood supply to the brain, heart, kidneys, and other organs and is associated with the increased risk of sudden cardiac death. Bradyarrhythmia appears in the absence of any associated cardiac pathology and displays a genetic legacy. The present study identified a family with primary manifestation of sinus bradycardia (five individuals) along with early repolarization (four individuals) and atrial fibrillation (one individual)...
March 16, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29556955/adult-stem-cells-and-medicine
#15
Sinem Civriz Bozdağ, Meltem Kurt Yüksel, Taner Demirer
Stem cells can be either totipotent, pluripotent, multipotent or unipotent. Totipotent cells have the capability to produce all cell types of the developing organism, including both embryonic and extraembryonic tissues. The Hematopoietic Stem Cells (HSC) are the first defined adult stem cells (ASC) that give rise to all blood cells and immune system. Use of HSCs for treatment of hematologic malignancies, which is also called bone marrow (BM) transplantation or peripheral blood stem cells (PBSC) transplantation is the pioneer of cellular therapy and translational research...
March 20, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29556235/exome-sequencing-diagnoses-x-linked-moesin-associated-immunodeficiency-in-a-primary-immunodeficiency-case
#16
Gabrielle Bradshaw, Robbie R Lualhati, Cassie L Albury, Neven Maksemous, Deidre Roos-Araujo, Robert A Smith, Miles C Benton, David A Eccles, Rod A Lea, Heidi G Sutherland, Larisa M Haupt, Lyn R Griffiths
Background: We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood. Aim: To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency. Method: Whole genome microarray copy number variant (CNV) analysis was performed on the proband followed by whole exome sequencing (WES) and trio analysis of the proband and family members...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29551298/a-novel-pathogenic-mutation-on-interleukin-7-receptor-leading-to-severe-combined-immunodeficiency-identified-with-newborn-screening-and-whole-exome-sequencing
#17
Cheng-Yu Liao, Hui-Wen Yu, Chao-Neng Cheng, Jiann-Shiuh Chen, Ching-Wei Lin, Peng-Chieh Chen, Chi-Chang Shieh
BACKGROUND: Patients with severe combined immunodeficiency (SCID), which is caused by genetic defects in immune-related genes involved in the development or activation of the adaptive immune system, often died in infancy due to severe infections before definite molecular diagnosis could be made. Although recent improvement in early diagnosis has been achieved by newborn screening, the genetic basis of many of the patients is still unknown. METHODS: Here we performed whole exome sequencing (WES) to investigate the underlying genetic causes of SCID in a proband identified with newborn screening...
March 2, 2018: Journal of Microbiology, Immunology, and Infection, Wei Mian Yu Gan Ran za Zhi
https://www.readbyqxmd.com/read/29548282/prevalence-of-glucose-6-phosphate-dehydrogenase-g6pd-deficiency-among-malaria-patients-in-upper-myanmar
#18
Jinyoung Lee, Tae Im Kim, Jung-Mi Kang, Hojong Jun, Hương Giang Lê, Thị Lam Thái, Woon-Mok Sohn, Moe Kyaw Myint, Khin Lin, Tong-Soo Kim, Byoung-Kuk Na
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) deficiency is one of the most common X-linked recessive hereditary disorders in the world. Primaquine (PQ) has been used for radical cure of P. vivax to prevent relapse. Recently, it is also used to reduce P. falciparum gametocyte carriage to block transmission. However, PQ metabolites oxidize hemoglobin and generate excessive reactive oxygen species which can trigger acute hemolytic anemia in malaria patients with inherited G6PD deficiency...
March 16, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29548035/specific-storage-of-glycoconjugates-with-terminal-%C3%AE-galactosyl-moieties-in-the-exocrine-pancreas-of-fabry-disease-patients-with-blood-group-b
#19
Jitka Rybová, Ladislav Kuchar, Helena Hulková, Befekadu Asfaw, Robert Dobrovolný, Jakub Sikora, Vladimír Havlícek, Ludovít Škultéty, Jana Ledvinová
Blood group B glycosphingolipids (B-GSLs) are substrates of the lysosomal alpha-galactosidase A (AGAL). Similar to its major substrate - globotriaosylceramide (Gb3Cer) - B-GSLs are not degraded and accumulate in the cells of patients affected by an inherited defect of AGAL activity (Fabry disease - FD).The pancreas is a secretory organ known to have high biosynthesis of blood group GSLs. Herein, we provide a comprehensive overview of the biochemical and structural abnormalities in pancreatic tissue from two male FD patients with blood group B...
March 14, 2018: Glycobiology
https://www.readbyqxmd.com/read/29531030/combination-of-cgmp-analogue-and-drug-delivery-system-provides-functional-protection-in-hereditary-retinal-degeneration
#20
Eleonora Vighi, Dragana Trifunović, Patricia Veiga-Crespo, Andreas Rentsch, Dorit Hoffmann, Ayse Sahaboglu, Torsten Strasser, Manoj Kulkarni, Evelina Bertolotti, Angelique van den Heuvel, Tobias Peters, Arie Reijerkerk, Thomas Euler, Marius Ueffing, Frank Schwede, Hans-Gottfried Genieser, Pieter Gaillard, Valeria Marigo, Per Ekström, François Paquet-Durand
Inherited retinal degeneration (RD) is a devastating and currently untreatable neurodegenerative condition that leads to loss of photoreceptor cells and blindness. The vast genetic heterogeneity of RD, the lack of "druggable" targets, and the access-limiting blood-retinal barrier (BRB) present major hurdles toward effective therapy development. Here, we address these challenges ( i ) by targeting cGMP (cyclic guanosine- 3',5'-monophosphate) signaling, a disease driver common to different types of RD, and ( ii ) by combining inhibitory cGMP analogs with a nanosized liposomal drug delivery system designed to facilitate transport across the BRB...
March 27, 2018: Proceedings of the National Academy of Sciences of the United States of America
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