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https://www.readbyqxmd.com/read/28782656/genetics-and-mechanisms-of-hepatic-cystogenesis
#1
REVIEW
L F M van de Laarschot, J P H Drenth
Polycystic liver disease (PLD) is a heterogeneous genetic condition. PKD1 and PKD2 germline mutations are found in patients with autosomal dominant polycystic kidney disease (ADPKD). Autosomal dominant polycystic liver disease (ADPLD) is associated with germline mutations in PRKCSH, SEC63, LRP5, and recently ALG8, and SEC61. GANAB mutations are found in both patient groups. Loss of heterozygosity of PLD-genes in cyst epithelium contributes to the development of hepatic cysts. A genetic interaction network is implied in hepatic cystogenesis that connects the endoplasmic glycoprotein control mechanisms and polycystin expression and localization...
August 4, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28522688/polycystic-kidney-disease-without-an-apparent-family-history
#2
Ioan-Andrei Iliuta, Vinusha Kalatharan, Kairong Wang, Emilie Cornec-Le Gall, John Conklin, Marina Pourafkari, Ryan Ting, Chen Chen, Alessia C Borgo, Ning He, Xuewen Song, Christina M Heyer, Sarah R Senum, Young-Hwan Hwang, Andrew D Paterson, Peter C Harris, Korosh Khalili, York Pei
The absence of a positive family history (PFH) in 10%-25% of patients poses a diagnostic challenge for autosomal dominant polycystic kidney disease (ADPKD). In the Toronto Genetic Epidemiology Study of Polycystic Kidney Disease, 210 affected probands underwent renal function testing, abdominal imaging, and comprehensive PKD1 and PKD2 mutation screening. From this cohort, we reviewed all patients with and without an apparent family history, examined their parental medical records, and performed renal imaging in all available parents of unknown disease status...
September 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28484880/what-is-new-in-cdg
#3
Jaak Jaeken, Romain Péanne
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation but also defects with hyperglycosylation. Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) and in genetic diseases causing secondary hypoglycosylation. This review covers the human CDG highlights from the last 3 years (2014-2016) following a summary of the actual status of CDG. It expands on 23 novel CDG namely defects in SLC39A8, CAD, NANS, PGM3, SSR4, POGLUT1, NUS1, GANAB, PIGY, PIGW, PIGC, PIGG, PGAP1, PGAP3, VPS13B, CCDC115, TMEM199, ATP6AP1, ATP6V1A, ATP6V1E1, TRAPPC11, XYLT1 and XYLT2...
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28375157/isolated-polycystic-liver-disease-genes-define-effectors-of-polycystin-1-function
#4
Whitney Besse, Ke Dong, Jungmin Choi, Sohan Punia, Sorin V Fedeles, Murim Choi, Anna-Rachel Gallagher, Emily B Huang, Ashima Gulati, James Knight, Shrikant Mane, Esa Tahvanainen, Pia Tahvanainen, Simone Sanna-Cherchi, Richard P Lifton, Terry Watnick, York P Pei, Vicente E Torres, Stefan Somlo
Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are radiologically and pathologically identical to those seen in autosomal dominant polycystic kidney disease, but without clinically relevant kidney cysts. The causative genes are known for fewer than 40% of PCLD index cases. Here, we have used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common PCLD genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B...
May 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28100567/mecp2-regulated-glycogenes-contribute-to-proliferation-and-apoptosis-of-gastric-cancer-cells
#5
Yannan Qin, Lingyu Zhao, Xiaofei Wang, Dongdong Tong, Christopher Hoover, Fei Wu, Yingxun Liu, Lumin Wang, Liying Liu, Lei Ni, Tusheng Song, Chen Huang
Aberrant glycogene and glycan expression is intimately associated with carcinogenesis, invasion, and metastasis of gastric cancer (GC); however the regulatory mechanisms for glycogenes in GC cells remain unclear. Methyl-CpG-binding protein 2 (MeCP2) regulates genes by binding to methylated promoters, and in our previous work we found that it is overexpressed in GC cell lines and tissues, functioning as an oncogene. In this study we detected the expression of 212 glycogenes in MeCP2 silenced GC cells versus control using the Agilent Whole Human Genome Microarray and mining the data through bioinformatic analysis...
April 1, 2017: Glycobiology
https://www.readbyqxmd.com/read/28056051/mapping-the-interactome-of-a-major-mammalian-endoplasmic-reticulum-heat-shock-protein-90
#6
Feng Hong, Saleh Mohammad Rachidi, Debbie Lundgren, David Han, Xiu Huang, Hongyu Zhao, Yayoi Kimura, Hisashi Hirano, Osamu Ohara, Heichiiro Udono, Songdong Meng, Bei Liu, Zihai Li
Up to 10% of cytosolic proteins are dependent on the mammalian heat shock protein 90 (HSP90) for folding. However, the interactors of its endoplasmic reticulum (ER) paralogue (gp96, Grp94 and HSP90b1) has not been systematically identified. By combining genetic and biochemical approaches, we have comprehensively mapped the interactome of gp96 in macrophages and B cells. A total of 511 proteins were reduced in gp96 knockdown cells, compared to levels observed in wild type cells. By immunoprecipitation, we found that 201 proteins associated with gp96...
2017: PloS One
https://www.readbyqxmd.com/read/27876822/a-principal-component-meta-analysis-on-multiple-anthropometric-traits-identifies-novel-loci-for-body-shape
#7
Janina S Ried, Janina Jeff M, Audrey Y Chu, Jennifer L Bragg-Gresham, Jenny van Dongen, Jennifer E Huffman, Tarunveer S Ahluwalia, Gemma Cadby, Niina Eklund, Joel Eriksson, Tõnu Esko, Mary F Feitosa, Anuj Goel, Mathias Gorski, Caroline Hayward, Nancy L Heard-Costa, Anne U Jackson, Eero Jokinen, Stavroula Kanoni, Kati Kristiansson, Zoltán Kutalik, Jari Lahti, Jian'an Luan, Reedik Mägi, Anubha Mahajan, Massimo Mangino, Carolina Medina-Gomez, Keri L Monda, Ilja M Nolte, Louis Pérusse, Inga Prokopenko, Lu Qi, Lynda M Rose, Erika Salvi, Megan T Smith, Harold Snieder, Alena Stančáková, Yun Ju Sung, Ioanna Tachmazidou, Alexander Teumer, Gudmar Thorleifsson, Pim van der Harst, Ryan W Walker, Sophie R Wang, Sarah H Wild, Sara M Willems, Andrew Wong, Weihua Zhang, Eva Albrecht, Alexessander Couto Alves, Stephan J L Bakker, Cristina Barlassina, Traci M Bartz, John Beilby, Claire Bellis, Richard N Bergman, Sven Bergmann, John Blangero, Matthias Blüher, Eric Boerwinkle, Lori L Bonnycastle, Stefan R Bornstein, Marcel Bruinenberg, Harry Campbell, Yii-Der Ida Chen, Charleston W K Chiang, Peter S Chines, Francis S Collins, Fracensco Cucca, L Adrienne Cupples, Francesca D'Avila, Eco J C de Geus, George Dedoussis, Maria Dimitriou, Angela Döring, Johan G Eriksson, Aliki-Eleni Farmaki, Martin Farrall, Teresa Ferreira, Krista Fischer, Nita G Forouhi, Nele Friedrich, Anette Prior Gjesing, Nicola Glorioso, Mariaelisa Graff, Harald Grallert, Niels Grarup, Jürgen Gräßler, Jagvir Grewal, Anders Hamsten, Marie Neergaard Harder, Catharina A Hartman, Maija Hassinen, Nicholas Hastie, Andrew Tym Hattersley, Aki S Havulinna, Markku Heliövaara, Hans Hillege, Albert Hofman, Oddgeir Holmen, Georg Homuth, Jouke-Jan Hottenga, Jennie Hui, Lise Lotte Husemoen, Pirro G Hysi, Aaron Isaacs, Till Ittermann, Shapour Jalilzadeh, Alan L James, Torben Jørgensen, Pekka Jousilahti, Antti Jula, Johanne Marie Justesen, Anne E Justice, Mika Kähönen, Maria Karaleftheri, Kay Tee Khaw, Sirkka M Keinanen-Kiukaanniemi, Leena Kinnunen, Paul B Knekt, Heikki A Koistinen, Ivana Kolcic, Ishminder K Kooner, Seppo Koskinen, Peter Kovacs, Theodosios Kyriakou, Tomi Laitinen, Claudia Langenberg, Alexandra M Lewin, Peter Lichtner, Cecilia M Lindgren, Jaana Lindström, Allan Linneberg, Roberto Lorbeer, Mattias Lorentzon, Robert Luben, Valeriya Lyssenko, Satu Männistö, Paolo Manunta, Irene Mateo Leach, Wendy L McArdle, Barbara Mcknight, Karen L Mohlke, Evelin Mihailov, Lili Milani, Rebecca Mills, May E Montasser, Andrew P Morris, Gabriele Müller, Arthur W Musk, Narisu Narisu, Ken K Ong, Ben A Oostra, Clive Osmond, Aarno Palotie, James S Pankow, Lavinia Paternoster, Brenda W Penninx, Irene Pichler, Maria G Pilia, Ozren Polašek, Peter P Pramstaller, Olli T Raitakari, Tuomo Rankinen, D C Rao, Nigel W Rayner, Rasmus Ribel-Madsen, Treva K Rice, Marcus Richards, Paul M Ridker, Fernando Rivadeneira, Kathy A Ryan, Serena Sanna, Mark A Sarzynski, Salome Scholtens, Robert A Scott, Sylvain Sebert, Lorraine Southam, Thomas Hempel Sparsø, Valgerdur Steinthorsdottir, Kathleen Stirrups, Ronald P Stolk, Konstantin Strauch, Heather M Stringham, Morris A Swertz, Amy J Swift, Anke Tönjes, Emmanouil Tsafantakis, Peter J van der Most, Jana V Van Vliet-Ostaptchouk, Liesbeth Vandenput, Erkki Vartiainen, Cristina Venturini, Niek Verweij, Jorma S Viikari, Veronique Vitart, Marie-Claude Vohl, Judith M Vonk, Gérard Waeber, Elisabeth Widén, Gonneke Willemsen, Tom Wilsgaard, Thomas W Winkler, Alan F Wright, Laura M Yerges-Armstrong, Jing Hua Zhao, M Carola Zillikens, Dorret I Boomsma, Claude Bouchard, John C Chambers, Daniel I Chasman, Daniele Cusi, Ron T Gansevoort, Christian Gieger, Torben Hansen, Andrew A Hicks, Frank Hu, Kristian Hveem, Marjo-Riitta Jarvelin, Eero Kajantie, Jaspal S Kooner, Diana Kuh, Johanna Kuusisto, Markku Laakso, Timo A Lakka, Terho Lehtimäki, Andres Metspalu, Inger Njølstad, Claes Ohlsson, Albertine J Oldehinkel, Lyle J Palmer, Oluf Pedersen, Markus Perola, Annette Peters, Bruce M Psaty, Hannu Puolijoki, Rainer Rauramaa, Igor Rudan, Veikko Salomaa, Peter E H Schwarz, Alan R Shudiner, Jan H Smit, Thorkild I A Sørensen, Timothy D Spector, Kari Stefansson, Michael Stumvoll, Angelo Tremblay, Jaakko Tuomilehto, André G Uitterlinden, Matti Uusitupa, Uwe Völker, Peter Vollenweider, Nicholas J Wareham, Hugh Watkins, James F Wilson, Eleftheria Zeggini, Goncalo R Abecasis, Michael Boehnke, Ingrid B Borecki, Panos Deloukas, Cornelia M van Duijn, Caroline Fox, Leif C Groop, Iris M Heid, David J Hunter, Robert C Kaplan, Mark I McCarthy, Kari E North, Jeffrey R O'Connell, David Schlessinger, Unnur Thorsteinsdottir, David P Strachan, Timothy Frayling, Joel N Hirschhorn, Martina Müller-Nurasyid, Ruth J F Loos
Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes...
November 23, 2016: Nature Communications
https://www.readbyqxmd.com/read/27259053/mutations-in-ganab-encoding-the-glucosidase-ii%C3%AE-subunit-cause-autosomal-dominant-polycystic-kidney-and-liver-disease
#8
Binu Porath, Vladimir G Gainullin, Emilie Cornec-Le Gall, Elizabeth K Dillinger, Christina M Heyer, Katharina Hopp, Marie E Edwards, Charles D Madsen, Sarah R Mauritz, Carly J Banks, Saurabh Baheti, Bharathi Reddy, José Ignacio Herrero, Jesús M Bañales, Marie C Hogan, Velibor Tasic, Terry J Watnick, Arlene B Chapman, Cécile Vigneau, Frédéric Lavainne, Marie-Pierre Audrézet, Claude Ferec, Yannick Le Meur, Vicente E Torres, Peter C Harris
Autosomal-dominant polycystic kidney disease (ADPKD) is a common, progressive, adult-onset disease that is an important cause of end-stage renal disease (ESRD), which requires transplantation or dialysis. Mutations in PKD1 or PKD2 (∼85% and ∼15% of resolved cases, respectively) are the known causes of ADPKD. Extrarenal manifestations include an increased level of intracranial aneurysms and polycystic liver disease (PLD), which can be severe and associated with significant morbidity. Autosomal-dominant PLD (ADPLD) with no or very few renal cysts is a separate disorder caused by PRKCSH, SEC63, or LRP5 mutations...
June 2, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/26987003/insight-into-glucosidase-ii-from-the-red-marine-microalga-porphyridium-sp-rhodophyta
#9
Oshrat Levy-Ontman, Merav Fisher, Yoram Shotland, Yoram Tekoah, Shoshana Malis Arad
N-glycosylation of proteins is one of the most important post-translational modifications that occur in various organisms, and is of utmost importance for protein function, stability, secretion, and loca-lization. Although the N-linked glycosylation pathway of proteins has been extensively characterized in mammals and plants, not much information is available regarding the N-glycosylation pathway in algae. We studied the α 1,3-glucosidase glucosidase II (GANAB) glycoenzyme in a red marine microalga Porphyridium sp...
December 2015: Journal of Phycology
https://www.readbyqxmd.com/read/25658244/impact-of-exposure-to-low-concentrations-of-nitric-oxide-on-protein-profile-in-murine-and-human-pancreatic-islet-cells
#10
Rafael Tapia-Limonchi, Irene Díaz, Gladys M Cahuana, Mario Bautista, Franz Martín, Bernat Soria, Juan R Tejedo, Francisco J Bedoya
Homeostatic levels of nitric oxide (NO) protect efficiently against apoptotic death in both human and rodent pancreatic β cells, but the protein profile of this action remains to be determined. We have applied a 2 dimensional LC-MS-MALDI-TOF/TOF-based analysis to study the impact of protective NO in rat insulin-producing RINm5F cell line and in mouse and human pancreatic islets (HPI) exposed to serum deprivation condition. 24 proteins in RINm5F and 22 in HPI were identified to undergo changes in at least one experimental condition...
2014: Islets
https://www.readbyqxmd.com/read/21642380/molecular-chaperones-as-a-common-set-of-proteins-that-regulate-the-invasion-phenotype-of-head-and-neck-cancer
#11
Ching-Chi Chiu, Chien-Yu Lin, Li-Yu Lee, Yin-Ju Chen, Ya-Ching Lu, Hung-Ming Wang, Chun-Ta Liao, Joseph Tung-Chieh Chang, Ann-Joy Cheng
PURPOSE: The goal of this study was to establish a common set of molecules that regulate cell invasion in head and neck cancer (HNC). EXPERIMENTAL DESIGN: Five invasive sublines derived from HNC cell lines were established using the Matrigel selection method. Proteomic technology, MetaCore algorithm, and reverse transcriptase-PCR methods were used to search for molecules that contribute to the invasion phenotype. Cellular functional analyses and clinical association studies were applied to examine the significance of the molecules...
July 15, 2011: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/19631775/fibroblast-growth-factor-2-induced-cytoplasmic-asparaginyl-trna-synthetase-promotes-survival-of-osteoblasts-by-regulating-anti-apoptotic-pi3k-akt-signaling
#12
Su Jin Park, Seong Hwan Kim, Han Seok Choi, Yumie Rhee, Sung-Kil Lim
Fibroblast growth factor 2 (FGF2), the potent bone anabolic agent, regulates the bone development, as well as the growth, remodeling and healing of the fracture. The intracellular signaling of FGF2 leads to activation of genes involved in cell proliferation, migration, differentiation and survival. However, little is known about FGF2-regulated proteins in the osteoblasts. Therefore, in this study, protein profiling in FGF2-treated MC3T3-E1 preosteoblast cells was evaluated using proteomic technologies. Six proteins including asparaginyl-tRNA synthetase (NARS), eukaryotic translation termination factor 1 (ETF1), GDP-forming succinyl-CoA synthetase (SUCLG2), heat shock protein 84 (HSP 84), sorting nexin 9 (SNX9) and alpha glucosidase 2alpha neutral subunit (GANAB) were increased more than 3-fold after the FGF2 treatment...
November 2009: Bone
https://www.readbyqxmd.com/read/19329191/pbmcs-protein-expression-profile-in-relapsing-ifn-treated-multiple-sclerosis-a-pilot-study-on-relation-to-clinical-findings-and-brain-atrophy
#13
R De Masi, D Vergara, S Pasca, R Acierno, M Greco, L Spagnolo, E Blasi, F Sanapo, G Trianni, M Maffia
This cross-sectional study investigated with two-dimensional gel electrophoresis coupled to MALDI-TOF and MRI the relationship between PBMCs protein expression profile and whole-brain atrophy in 16 unselected RR-MS IFN-treated patients compared with 6 RR IFN-untreated and 12 matched healthy control subjects. Grey/white matter fraction, T1/T2 lesion load and clinical variables were considered too. Twenty six proteins showed significant differential expression among RR IFN-treated patients and control samples...
May 29, 2009: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/6669780/-cardiopulmonary-resuscitation-long-term-survival
#14
M V Martínez Pérez, A Criado Jiménez, R Galván Flórez, J Gómez-Arnau y Díaz De Gañabate, F Avello García
No abstract text is available yet for this article.
July 1983: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/3220474/chromosomal-mapping-of-lysosomal-enzyme-structural-genes-in-the-domestic-cat
#15
COMPARATIVE STUDY
D A Gilbert, J S O'Brien, S J O'Brien
A panel of 42 rodent x cat somatic cell hybrids has been used to assign seven structural genes for lysosomal enzymes to specific chromosomes in the domestic cat. The assignments include alpha-glucosidase (GANAB) to chromosome D1, alpha-galactosidase (GLA) to the X chromosome, beta-galactosidase 1 (GLB1) to chromosome B3, beta-glucuronidase (GUSB) to chromosome E3, alpha-mannosidase A (MANA) to chromosome B3, alpha-L-fucosidase (FUCA) to chromosome C1, and hexosaminidase A (HEXA) to chromosome B3. In all cases, the feline lysosomal enzyme genes were located in linkage groups which were syntenic with their homologous positions in the human gene map...
May 1988: Genomics
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