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https://www.readbyqxmd.com/read/28821725/interplay-between-maternal-slc6a4-mutation-and-prenatal-stress-a-possible-mechanism-for-autistic-behavior-development
#1
Calvin P Sjaarda, Patrick Hecht, Amy J M McNaughton, Audrina Zhou, Melissa L Hudson, Matt J Will, Garth Smith, Muhammad Ayub, Ping Liang, Nansheng Chen, David Beversdorf, Xudong Liu
The low activity allele of the maternal polymorphism, 5HTTLPR, in the serotonin transporter, SLC6A4, coupled with prenatal stress is reported to increase the risk for children to develop autism spectrum disorder (ASD). Similarly, maternal Slc6a4 knock-out and prenatal stress in rodents results in offspring demonstrating ASD-like characteristics. The present study uses an integrative genomics approach to explore mechanistic changes in early brain development in mouse embryos exposed to this maternal gene-environment phenomenon...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28820737/when-one-disease-is-not-enough-succinyl-coa-3-oxoacid-coenzyme-a-transferase-scot-deficiency-due-to-a-novel-mutation-in-oxct1-in-an-infant-with-known-phenylketonuria
#2
Jan-Niclas Schwade, Matthias Endmann, Thomas Hofmann, Stephan Rust, Jörn Oliver Sass, Frank Rutsch
A 9-month-old Turkish girl was admitted several times within 3 months to the hospital in reduced general condition and with extreme tachypnea. The patient had been diagnosed with phenylketonuria (PKU) in newborn screening and has been treated with a low phenylalanine diet and amino acid supplements. Each time an unexplained pronounced metabolic acidosis was noted, and the child was treated with sodium-bicarbonate and glucose-electrolyte infusions. The acidosis with only slightly abnormal glucose, normal lactate levels and pronounced ketonuria suggested a defect in ketone body utilization...
August 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28815565/generation-of-animal-form-by-the-chordin-tolloid-bmp-gradient-100%C3%A2-years-after-d-arcy-thompson
#3
Edward M De Robertis, Yuki Moriyama, Gabriele Colozza
The classic book "On Growth and Form" by naturalist D'Arcy Thompson was published 100 years ago. To celebrate this landmark, we present experiments in the Xenopus embryo that provide a framework for understanding how simple, quantitative transformations of a morphogen gradient might have affected evolution and morphological diversity of organisms. D'Arcy Thompson proposed that different morphologies might be generated by modifying physical parameters in an underlying system of Cartesian coordinates that pre-existed in Nature and arose during evolutionary history...
August 16, 2017: Development, Growth & Differentiation
https://www.readbyqxmd.com/read/28815216/epistatic-interactions-within-the-influenza-a-virus-polymerase-complex-mediate-mutagen-resistance-and-replication-fidelity
#4
Matthew D Pauly, Daniel M Lyons, William J Fitzsimmons, Adam S Lauring
Lethal mutagenesis is a broad-spectrum antiviral strategy that employs mutagenic nucleoside analogs to exploit the high mutation rate and low mutational tolerance of many RNA viruses. Studies of mutagen-resistant viruses have identified determinants of replicative fidelity and the importance of mutation rate to viral population dynamics. We have previously demonstrated the effective lethal mutagenesis of influenza A virus using three nucleoside analogs as well as the virus's high genetic barrier to mutagen resistance...
July 2017: MSphere
https://www.readbyqxmd.com/read/28811805/diagnosis-and-phenotypic-assessment-of-pakistani-haemophilia-b-carriers
#5
Muhammad Tariq Masood Khan, Arshi Naz, Jawad Ahmed, Tahir Sultan Shamsi, Abid Sohail Taj
OBJECTIVES: 1: To assess the diagnostic utility of three polymorphisms (DdeI, XmnI and TaqI) and direct sequencing in haemophilia B (HB) carrier detection in Pakistani families. 2: To compare phenotypes of HB carriers with those of healthy females. METHODS: The study was conducted from March 2014 till February 2016 at Khyber Medical University Peshawar and National Institute of Blood Diseases, Karachi. Individuals from HB families of Khyber Pakhtunkhwa (KP) and Federally Administered Tribal Areas (FATA) with known F9 mutation in the proband were enrolled into the study...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28810702/the-nutrient-transceptor-pka-pathway-functions-independently-of-tor-and-responds-to-leucine-and-gcn2-in-a-tor-independent-manner
#6
Michaela Conrad, Harish Nag Kankipati, Marlies Kimpe, Griet Van Zeebroeck, Zhiqiang Zhang, Johan M Thevelein
Two nutrient-controlled signalling pathways, the PKA and TOR pathway, play a major role in nutrient regulation of growth as well as growth-correlated properties in yeast. The relationship between the two pathways is not well understood. We have used Gap1 and Pho84 transceptor-mediated activation of trehalase and phosphorylation of fragmented Sch9 as a read-out for rapid nutrient activation of PKA or TORC1, respectively. We have identified conditions in which L-citrulline-induced activation of Sch9 phosphorylation is compromised, but not activation of trehalase: addition of the TORC1 inhibitor, rapamycin and low levels of L-citrulline...
August 1, 2017: FEMS Yeast Research
https://www.readbyqxmd.com/read/28807458/caveolin-3-deficiency-myopathy-associated-with-dyslipidemia-treatment-challenges-and-possible-pathophysiological-association
#7
Daiana Ibarretxe, Joan Pellejà, Nicolau Ortiz, Luis Masana
We report the case of a patient treated at the lipid clinic because of high cholesterol levels with consistently elevated creatine kinase concentrations that precluded statin treatment. Electromyography showed a rippling muscle disease pattern. A muscle biopsy confirmed caveolin 3 deficiency, and a missense mutation in the CAV3 gene was identified. The patient could be properly managed with ezetimibe and cholestyramine, which reduced the low-density lipoprotein cholesterol by 30%. He remains asymptomatic after 10 years of follow-up...
August 1, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28805806/lung-tumor-exome-files-with-t-cell-receptor-recombinations-a-mouse-model-of-t-cell-infiltrates-reflecting-mutation-burdens
#8
Yaping N Tu, Wei Lue Tong, Timothy J Fawcett, George Blanck
Tumor exomes and RNASeq data were originally intended for obtaining tumor mutations and gene expression profiles, respectively. However, recent work has determined that tumor exome and RNAseq read files contain reads representing T-cell and B-cell receptor (TcR and BcR) recombinations, presumably due to infiltrating lymphocytes. Furthermore, the recovery of immune receptor recombination reads has demonstrated correlations with specific, previously appreciated aspects of tumor immunology. To further understand the usefulness of recovering TcR and BcR recombinations from tumor exome files, we developed a scripted algorithm for recovery of reads representing these recombinations from a previously described mouse model of lung tumorigenesis...
August 14, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28804634/muscle-mri-findings-in-a-one-year-old-girl-with-merosin-deficient-congenital-muscular-dystrophy-type-1a-due-to-lama2-mutation-a-case-report
#9
Yingyin Liang, Guidian Li, Songlin Chen, Rongxing He, Xiangxue Zhou, Yingming Chen, Xue Xu, Ronglan Zhu, Cheng Zhang
The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the Cornu posterius of the ventricular lateral...
August 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28804463/effect-of-oral-docosahexaenoic-acid-dha-supplementation-on-dha-levels-and-omega-3-index-in-red-blood-cell-membranes-of-breast-cancer-patients
#10
Alessio Molfino, Maria I Amabile, Sara Mazzucco, Gianni Biolo, Alessio Farcomeni, Cesarina Ramaccini, Simonetta Antonaroli, Massimo Monti, Maurizio Muscaritoli
Rationale: Docosahexaenoic acid (DHA) in cell membrane may influence breast cancer (BC) patients' prognosis, affecting tumor cells sensitivity to chemo- and radio-therapy and likely modulating inflammation. The possibility of identifying BC patients presenting with low DHA levels and/or low ability of DHA incorporation into cell membrane might help to treat this condition. Methods: We enrolled BC patients and healthy controls, recording their seafood dietary intake. DHA in form of algal oil was administered for 10 consecutive days (2 g/day)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28802630/infantile-hypophosphatasia-combined-with-vitamin-b6-responsive-seizures-and-reticular-formation-lesions-on-magnetic-resonance-imaging-a-case-report
#11
Mitsuharu Fukazawa, Junichiro Tezuka, Momoko Sasazuki, Natsuko Masumoto, Haruhisa Baba, Takehiko Doi, Yasushi Tsutsumi, Yuji Mizuno, Futoshi Mihara, Hideki Nakayama
BACKGROUND: Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit various presentations depending on their age at onset, such as infantile HPP combined with vitamin B6-responsive seizures. CASE PRESENTATION: A newborn with infantile HPP presented with tonic convulsions from day 5 after birth and received intravenous vitamin B6 (10mg/kg/day pyridoxal phosphate)...
August 9, 2017: Brain & Development
https://www.readbyqxmd.com/read/28801986/persistent-detection-of-alternatively-spliced-bcr-abl-variant-results-in-a-failure-to-achieve-deep-molecular-response
#12
Junichiro Yuda, Toshihiro Miyamoto, Jun Odawara, Yasuyuki Ohkawa, Yuichiro Semba, Masayasu Hayashi, Koichi Miyamura, Mitsune Tanimoto, Kazuhito Yamamoto, Masafumi Taniwaki, Koichi Akashi
Treatment with tyrosine kinase inhibitors (TKIs) may sequentially induce TKI-resistant BCR-ABL mutants in chronic myeloid leukemia (CML). Conventional polymerase chain reaction (PCR) monitoring of BCR-ABL is an important indicator to determine therapeutic intervention for preventing disease progression. However, PCR cannot quantify separately amounts of BCR-ABL and its mutants, including alternatively spliced BCR-ABL with an insertion of 35 intronic nucleotides (BCR-ABL(I)(ns35bp) ) between ABL exons 8 and 9 which introduces the premature termination and loss of kinase activity...
August 12, 2017: Cancer Science
https://www.readbyqxmd.com/read/28801086/slowly-progressive-leukodystrophy-in-an-adolescent-male-with-phosphoglycerate-kinase-deficiency
#13
Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi
We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood. Clumsiness in walking and writing became obvious at ∼10years of age. Evaluations performed by us on the 18-year-old patient confirmed the presence of pyramidal tract signs, increased muscle tone, and generalized dystonia...
August 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28799673/tpx2-p53-glipr1-regulatory-circuitry-in-cell-proliferation-invasion-and-tumor-growth-of-bladder-cancer
#14
Liang Yan, Qi Li, Juan Yang, Baoping Qiao
The targeting protein for Xenopus kinesin-like protein 2 (TPX2) is associated with the metastasis and prognosis of bladder cancer. p53 is closely related to the progression of bladder cancer. Human glioma pathogenesis-related protein 1 (GLIPR1) is a p53 target gene with antitumor activity. This study aims to explore the interplay between TPX2, p53 and GLIPR1 and its correlation with cell proliferation, invasion and tumor growth in bladder cancer. Here, Western blot and qRT-PCR analysis revealed that TPX2 at both mRNA and protein levels was up-regulated in bladder carcinoma tissues compared to their paired adjacent normal tissues...
August 11, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28795354/drug-resistance-mutation-profiles-of-the-drug-na%C3%A3-ve-and-first-line-regimen-treated-hiv-1-infected-population-of-suzhou-china
#15
Tingting Li, Feng Qian, Ting Yuan, Weilu Xu, Li Zhu, Jinlong Huang, Haiyan Wang, Yueping Zhu, Yinling Wang, Xiaohong Li, Saihong Gu, Zhuqing Tan, Hui Chen, Xiangrong Luo, Wei Zhu, Wenjuan Lu, Ping Xu, Ming Li, Yuying Chen, Yong Gao, Rongge Yang, Chuanwu Zhu, Binlian Sun
Little is known about the prevalence of drug-resistant mutations in HIV-1-positive individuals in Suzhou, China. To elucidate the transmitted drug resistance (TDR) and acquired drug resistance mutation (ADR) profiles, we collected blood specimens from 127 drug-naïve and 117 first-line drug-treated HIV-1-infected individuals sampled from 2014 to 2016 in Suzhou. We successfully amplified pol fragments from 100 drug-naïve and 20 drug-treated samples. We then determined the drug-resistant mutations to protease (PR) and reverse-transcriptase (RT) inhibitors according to the Stanford drug resistance database...
August 7, 2017: Virologica Sinica
https://www.readbyqxmd.com/read/28794131/heterogeneous-clinical-spectrum-of-dnajc12-deficient-hyperphenylalaninemia-from-attention-deficit-to-severe-dystonia-and-intellectual-disability
#16
Francjan J van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, Nan Shen, Danique van Vliet, Mohammed Al-Owain, Khushnooda Ramzan, Salwa M Alkhalifi, Roelineke J Lunsing, Rebecca M Heiner-Fokkema, Anahita Rassi, Corinne Gemperle-Britschgi, Georg F Hoffmann, Nenad Blau, Beat Thöny
BACKGROUND: Autosomal recessive mutations in DNAJC12, encoding a cochaperone of HSP70 with hitherto unknown function, were recently described to lead to hyperphenylalaninemia, central monoamine neurotransmitter (dopamine and serotonin) deficiency, dystonia and intellectual disability in six subjects affected by homozygous variants. OBJECTIVE: Patients exhibiting hyperphenylalaninemia in whom deficiencies in hepatic phenylalanine hydroxylase and tetrahydrobiopterin cofactor metabolism had been excluded were subsequently analysed for DNAJC12 variants...
August 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28794040/pathobiology-of-clade-2-3-4-4-h5nx-high-pathogenicity-avian-influenza-virus-infections-in-minor-gallinaceous-poultry-supports-early-backyard-flock-introductions-in-western-u-s-2014-2015
#17
Kateri Bertran, Dong-Hun Lee, Mary J Pantin-Jackwood, Erica Spackman, Charles Balzli, David L Suarez, David E Swayne
In 2014-2015, the U.S. experienced an unprecedented outbreak of Eurasian clade 2.3.4.4 H5 highly pathogenic avian influenza (HPAI) virus. Initial cases affected mainly wild birds and mixed backyard poultry species, while later outbreaks affected mostly commercial chickens and turkeys. The pathogenesis, transmission, and intra-host evolutionary dynamics of initial Eurasian H5N8 and reassortant H5N2 clade 2.3.4.4 HPAI viruses in the U.S. were investigated in minor gallinaceous poultry species (i.e. species for which the U...
August 9, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28793859/investigating-knockdown-resistance-kdr-mechanism-against-pyrethroids-ddt-in-the-malaria-vector-anopheles-funestus-across-africa
#18
Helen Irving, Charles S Wondji
BACKGROUND: Understanding the molecular basis of insecticide resistance is key to improve the surveillance and monitoring of malaria vector populations under control. In the major malaria vector Anopheles funestus, little is currently known about the role of the knockdown resistance (kdr) mechanism. Here, we investigated the presence and contribution of knockdown resistance (kdr) to pyrethroids/DDT resistance observed in Anopheles funestus across Africa. RESULTS: Pyrosequencing genotyping and sequencing of the voltage gated sodium channel (VGSC) gene did not detect the common L1014F mutation in field collected An...
August 9, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28791403/complex-analysis-of-the-tp53-tumor-suppressor-in-mantle-cell-and-diffuse-large-b-cell-lymphomas
#19
Lenka Zlamalikova, Mojmir Moulis, Barbora Ravcukova, Kvetoslava Liskova, Jitka Malcikova, David Salek, Jiri Jarkovsky, Miluse Svitakova, Renata Hrabalkova, Jan Smarda, Jana Smardova
Mutations and deletions of the tumor suppressor TP53 gene are the most frequent genetic alterations detected in human tumors, though they are rather less frequent in lymphomas. However, acquisition of the TP53 mutation was demonstrated to be one of the characteristic markers in mantle cell lymphoma (MCL) and diffuse large B-cell lymphoma (DLBCL) and prognostic value of the TP53 status has been recognized for these diseases. We present the complex analysis of the TP53 aberrations in 57 cases of MCL and 131 cases of DLBCL...
August 8, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28791007/prospective-study-of-a-cohort-of-russian-nijmegen-breakage-syndrome-patients-demonstrating-predictive-value-of-low-kappa-deleting-recombination-excision-circle-krec-numbers-and-beneficial-effect-of-hematopoietic-stem-cell-transplantation-hsct
#20
Elena Deripapa, Dmitry Balashov, Yulia Rodina, Alexandra Laberko, Natalya Myakova, Nataliia V Davydova, Maria A Gordukova, Dmitrii S Abramov, Galina V Pay, Larisa Shelikhova, Andrey P Prodeus, Mikhail A Maschan, Alexey A Maschan, Anna Shcherbina
BACKGROUND: Nijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defect, microcephaly, and other phenotypical features. It predominantly occurs in Slavic populations that have a high frequency of carriers with the causative NBN gene c.657_661del5 mutation. Due to the rarity of the disease in the rest of the world, studies of NBS patients are few. Here, we report a prospective study of a cohort of Russian NBS patients. METHODS: 35 Russian NBS patients of ages 1-19 years, referred to our Center between years 2012 and 2016, were prospectively studied...
2017: Frontiers in Immunology
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