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Volume 26; Issue 8
Main
Human Molecular Genetics
Volume 26; Issue 8
Human Molecular Genetics
Volume 26; Issue 8
1
Downstream targets of GWAS-detected genes for breast, lung, and prostate and colon cancer converge to G1/S transition pathway
Gorlova, Olga Y.
,
Demidenko, Eugene I.
,
Amos, Christopher I.
,
Gorlov, Ivan P.
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 213 KB
Your tags:
english, 2017
2
Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID
Roca, Carles
,
Motas, Sandra
,
Marcó, Sara
,
Ribera, Albert
,
Sánchez, Víctor
,
Sánchez, Xavier
,
Bertolin, Joan
,
León, Xavier
,
Pérez, Jennifer
,
Garcia, Miguel
,
Villacampa, Pilar
,
Ruberte, Jesús
,
Pujol, Ann
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 3.15 MB
Your tags:
english, 2017
3
Increased cytoplasmic TDP-43 reduces global protein synthesis by interacting with RACK1 on polyribosomes
Russo, Arianna
,
Scardigli, Raffaella
,
La Regina, Federico
,
Murray, Melissa E.
,
Romano, Nicla
,
Dickson, Dennis W.
,
Wolozin, Benjamin
,
Cattaneo, Antonino
,
Ceci, Marcello
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 613 KB
Your tags:
english, 2017
4
Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis
Zhu, Zezhang
,
Xu, Leilei
,
Leung-Sang Tang, Nelson
,
Qin, Xiaodong
,
Feng, Zhenhua
,
Sun, Weixiang
,
Zhu, Weiguo
,
Shi, Benlong
,
Liu, Peng
,
Mao, Saihu
,
Qiao, Jun
,
Liu, Zhen
,
Sun, Xu
,
Li, Fangcai
,
Chun-Yiu C
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 504 KB
Your tags:
english, 2017
5
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition
Blouin, Jean-Marc
,
Bernardo-Seisdedos, Ganeko
,
Sasso, Emma
,
Esteve, Julie
,
Ged, Cécile
,
Lalanne, Magalie
,
Sanz-Parra, Arantza
,
Urquiza, Pedro
,
de Verneuil, Hubert
,
Millet, Oscar
,
Richard, Emmanuel
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.18 MB
Your tags:
english, 2017
6
Conditional eQTL analysis reveals allelic heterogeneity of gene expression
Jansen, Rick
,
Hottenga, Jouke-Jan
,
Nivard, Michel G.
,
Abdellaoui, Abdel
,
Laport, Bram
,
de Geus, Eco J.
,
Wright, Fred A.
,
Penninx, Brenda W.J.H.
,
Boomsma, Dorret I.
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 347 KB
Your tags:
english, 2017
7
Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization
Fröhlich, Henning
,
Rafiullah, Rafiullah
,
Schmitt, Nathalie
,
Abele, Sonja
,
Rappold, Gudrun A.
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.51 MB
Your tags:
english, 2017
8
Remodelling of microRNAs in colorectal cancer by hypoxia alters metabolism profiles and 5-fluorouracil resistance
Nijhuis, Anke
,
Thompson, Hannah
,
Adam, Julie
,
Parker, Alexandra
,
Gammon, Luke
,
Lewis, Amy
,
Bundy, Jacob G.
,
Soga, Tomoyoshi
,
Jalaly, Aisha
,
Propper, David
,
Jeffery, Rosemary
,
Suraweera, Nirosha
,
McDon
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 2.16 MB
Your tags:
english, 2017
9
Mitochondria-targeted small molecule SS31: a potential candidate for the treatment of Alzheimer’s disease
Reddy, P. Hemachandra
,
Manczak, Maria
,
Kandimalla, Ramesh
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.16 MB
Your tags:
english, 2017
10
Interaction of the polyglutamine protein ataxin-3 with Rad23 regulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3
Sutton, Joanna R.
,
Blount, Jessica R.
,
Libohova, Kozeta
,
Tsou, Wei-Ling
,
Joshi, Gnanada S.
,
Paulson, Henry L.
,
Costa, Maria do Carmo
,
Scaglione, K. Matthew
,
Todi, Sokol V.
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.89 MB
Your tags:
english, 2017
11
Silencing of the Drosophila ortholog of SOX5 leads to abnormal neuronal development and behavioral impairment
Li, Airong
,
Hooli, Basavaraj
,
Mullin, Kristina
,
Tate, Rebecca E.
,
Bubnys, Adele
,
Kirchner, Rory
,
Chapman, Brad
,
Hofmann, Oliver
,
Hide, Winston
,
Tanzi, Rudolph E.
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 712 KB
Your tags:
english, 2017
12
PTRH2 gene mutation causes progressive congenital skeletal muscle pathology
Doe, Jinger
,
Kaindl, Angela M.
,
Jijiwa, Mayumi
,
de la Vega, Michelle
,
Hu, Hao
,
Griffiths, Genevieve S.
,
Fontelonga, Tatiana M.
,
Barraza, Pamela
,
Cruz, Vivian
,
Van Ry, Pam
,
Ramos, Joe W.
,
Burkin, Dean
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 513 KB
Your tags:
english, 2017
13
Neutrophil-mediated IL-6 receptor trans-signaling and the risk of chronic obstructive pulmonary disease and asthma
Farahi, Neda
,
Paige, Ellie
,
Balla, Jozef
,
Prudence, Emily
,
Ferreira, Ricardo C.
,
Southwood, Mark
,
Appleby, Sarah L.
,
Bakke, Per
,
Gulsvik, Amund
,
Litonjua, Augusto A.
,
Sparrow, David
,
Silverman, Edwin
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 644 KB
Your tags:
english, 2017
14
Mitochondria-targeted small molecule SS31: a potential candidate for the treatment of Alzheimer’s disease
Reddy, P. Hemachandra
,
Manczak, Maria
,
Kandimalla, Ramesh
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 39 KB
Your tags:
english, 2017
15
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia
Cooper, Helen M.
,
Yang, Yang
,
Ylikallio, Emil
,
Khairullin, Rafil
,
Woldegebriel, Rosa
,
Lin, Kai-Lan
,
Euro, Liliya
,
Palin, Eino
,
Wolf, Alexander
,
Trokovic, Ras
,
Isohanni, Pirjo
,
Kaakkola, Seppo
,
Auranen
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 913 KB
Your tags:
english, 2017
16
Mutations in MSH5 in primary ovarian insufficiency
Guo, Ting
,
Zhao, Shidou
,
Zhao, Shigang
,
Chen, Min
,
Li, Guangyu
,
Jiao, Xue
,
Wang, Zhao
,
Zhao, Yueran
,
Qin, Yingying
,
Gao, Fei
,
Chen, Zi-Jiang
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 616 KB
Your tags:
english, 2017
17
DNMT1 mutations found in HSANIE patients affect interaction with UHRF1 and neuronal differentiation
Smets, Martha
,
Link, Stephanie
,
Wolf, Patricia
,
Schneider, Katrin
,
Solis, Veronica
,
Ryan, Joel
,
Meilinger, Daniela
,
Qin, Weihua
,
Leonhardt, Heinrich
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.97 MB
Your tags:
english, 2017
18
Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate
Rzepnikowska, Weronika
,
Flis, Krzysztof
,
Kaminska, Joanna
,
Grynberg, Marcin
,
Urbanek, Agnieszka
,
Ayscough, Kathryn R.
,
Zoladek, Teresa
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 978 KB
Your tags:
english, 2017
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