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Volume 26; Issue 7
Main
Human Molecular Genetics
Volume 26; Issue 7
Human Molecular Genetics
Volume 26; Issue 7
1
Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity
Belling, Kirstine
,
Russo, Francesco
,
Jensen, Anders B.
,
Dalgaard, Marlene D.
,
Westergaard, David
,
Rajpert-De Meyts, Ewa
,
Skakkebæk, Niels E.
,
Juul, Anders
,
Brunak, Søren
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.15 MB
Your tags:
english, 2017
2
Opposing FlnA and FlnB interactions regulate RhoA activation in guiding dynamic actin stress fiber formation and cell spreading
Hu, Jianjun
,
Lu, Jie
,
Goyal, Akshay
,
Wong, Timothy
,
Lian, Gewei
,
Zhang, Jingping
,
Hecht, Jonathan L.
,
Feng, Yuanyi
,
Sheen, Volney L.
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.46 MB
Your tags:
english, 2017
3
AAV9 delivered bispecific nanobody attenuates amyloid burden in the gelsolin amyloidosis mouse model
Verhelle, Adriaan
,
Nair, Nisha
,
Everaert, Inge
,
Van Overbeke, Wouter
,
Supply, Lynn
,
Zwaenepoel, Olivier
,
Peleman, Cindy
,
Van Dorpe, Jo
,
Lahoutte, Tony
,
Devoogdt, Nick
,
Derave, Wim
,
Chuah, Marinee K.
,
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.29 MB
Your tags:
english, 2017
4
Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels
Shin, Aram
,
Shin, Baehyun
,
Shin, Jun Wan
,
Kim, Kyung-Hee
,
Atwal, Ranjit S.
,
Hope, Jennifer M.
,
Gillis, Tammy
,
Leszyk, John D.
,
Shaffer, Scott A.
,
Lee, Ramee
,
Kwak, Seung
,
MacDonald, Marcy E.
,
Gusella,
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 508 KB
Your tags:
english, 2017
5
Gclc deficiency in mouse CNS causes mitochondrial damage and neurodegeneration
Feng, Weiyi
,
Rosca, Mariana
,
Fan, Yuxuan
,
Hu, Yufen
,
Feng, Pingfu
,
Lee, Hyoung-Gon
,
Monnier, Vincent M.
,
Fan, Xingjun
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 2.52 MB
Your tags:
english, 2017
6
Sex specific activation of the ERα axis of the mitochondrial UPR (UPRmt) in the G93A-SOD1 mouse model of familial ALS
Riar, Amanjot K
,
Burstein, Suzanne R
,
Palomo, Gloria M.
,
Arreguin, Andrea
,
Manfredi, Giovanni
,
Germain, Doris
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 811 KB
Your tags:
english, 2017
7
Inhibiting sphingosine kinase 2 mitigates mutant Huntingtin-induced neurodegeneration in neuron models of Huntington disease
Moruno-Manchon, Jose F.
,
Uzor, Ndidi-Ese
,
Blasco-Conesa, Maria P.
,
Mannuru, Sishira
,
Putluri, Nagireddy
,
Furr-Stimming, Erin E.
,
Tsvetkov, Andrey S.
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 866 KB
Your tags:
english, 2017
8
A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome
Tang, Lingyun
,
Wu, Xiaolin
,
Zhang, Hongxin
,
Lu, Shunyuan
,
Wu, Min
,
Shen, Chunling
,
Chen, Xuejiao
,
Wang, Yicheng
,
Wang, Weigang
,
Shen, Yan
,
Gu, Mingmin
,
Ding, Xiaoyi
,
Jin, Xiaolong
,
Fei, Jian
,
Wang, Zh
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.96 MB
Your tags:
english, 2017
9
Mitochondrial complex II regulates a distinct oxygen sensing mechanism in monocytes
Sharma, Shraddha
,
Wang, Jianming
,
Cortes Gomez, Eduardo
,
Taggart, Robert T.
,
Baysal, Bora E.
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 810 KB
Your tags:
english, 2017
10
Fragile X related protein 1 (FXR1P) regulates proliferation of adult neural stem cells
Patzlaff, Natalie E.
,
Nemec, Kelsey M.
,
Malone, Sydney G.
,
Li, Yue
,
Zhao, Xinyu
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.60 MB
Your tags:
english, 2017
11
LRRK2(I2020T) functional genetic interactors that modify eye degeneration and dopaminergic cell loss in Drosophila
Marcogliese, Paul C.
,
Abuaish, Sameera
,
Kabbach, Ghassan
,
Abdel-Messih, Elizabeth
,
Seang, Sarah
,
Li, Gang
,
Slack, Ruth S.
,
Haque, M. Emdadul
,
Venderova, Katerina
,
Park, David S.
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.74 MB
Your tags:
english, 2017
12
Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells
Yu, Wanfeng
,
Ni, Ying
,
Saji, Motoyasu
,
Ringel, Matthew D.
,
Jaini, Ritika
,
Eng, Charis
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 706 KB
Your tags:
english, 2017
13
Therapeutic potential of AAV-mediated MMP-3 secretion from corneal endothelium in treating glaucoma
O’Callaghan, Jeffrey
,
Crosbie, Darragh. E.
,
Cassidy, Paul. S.
,
Sherwood, Joseph M.
,
Flügel-Koch, Cassandra
,
Lütjen-Drecoll, Elke
,
Humphries, Marian M.
,
Reina-Torres, Ester
,
Wallace, Deborah
,
Kiang, An
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.61 MB
Your tags:
english, 2017
14
Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia
Kurosaka, Hiroshi
,
Wang, Qi
,
Sandell, Lisa
,
Yamashiro, Takashi
,
Trainor, Paul A.
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 1.41 MB
Your tags:
english, 2017
15
GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci
Jones, Amy V.
,
Tilley, Mera
,
Gutteridge, Alex
,
Hyde, Craig
,
Nagle, Michael
,
Ziemek, Daniel
,
Gorman, Donal
,
Fauman, Eric B.
,
Chen, Xing
,
Miller, Melissa R.
,
Tian, Chao
,
Hu, Youna
,
Hinds, David A.
,
Cox,
Journal:
Human Molecular Genetics
Year:
2017
Language:
english
File:
PDF, 537 KB
Your tags:
english, 2017
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