books search
books
articles search
articles
Donate
Log In
Log In
to access more features
personal recommendations
Telegram Bot
download history
send to Email or Kindle
manage booklists
save to favorites
Personal
Book Requests
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 23; Issue 24
Main
Human Molecular Genetics
Volume 23; Issue 24
Human Molecular Genetics
Volume 23; Issue 24
1
Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies
Shimamoto, C.
,
Ohnishi, T.
,
Maekawa, M.
,
Watanabe, A.
,
Ohba, H.
,
Arai, R.
,
Iwayama, Y.
,
Hisano, Y.
,
Toyota, T.
,
Toyoshima, M.
,
Suzuki, K.
,
Shirayama, Y.
,
Nakamura, K.
,
Mori, N.
,
Owada, Y.
,
Kobayashi,
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.38 MB
Your tags:
english, 2014
2
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels
Kwan, J. S. H.
,
Hsu, Y.-H.
,
Cheung, C.-L.
,
Dupuis, J.
,
Saint-Pierre, A.
,
Eriksson, J.
,
Handelman, S. K.
,
Aragaki, A.
,
Karasik, D.
,
Pramstaller, P. P.
,
Kooperberg, C.
,
Lacroix, A. Z.
,
Larson, M. G.
,
La
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 799 KB
Your tags:
english, 2014
3
Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder
Segura-Puimedon, M.
,
Sahun, I.
,
Velot, E.
,
Dubus, P.
,
Borralleras, C.
,
Rodrigues, A. J.
,
Valero, M. C.
,
Valverde, O.
,
Sousa, N.
,
Herault, Y.
,
Dierssen, M.
,
Perez-Jurado, L. A.
,
Campuzano, V.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 757 KB
Your tags:
english, 2014
4
Oxaloacetate activates brain mitochondrial biogenesis, enhances the insulin pathway, reduces inflammation and stimulates neurogenesis
Wilkins, H. M.
,
Harris, J. L.
,
Carl, S. M.
,
E, L.
,
Lu, J.
,
Eva Selfridge, J.
,
Roy, N.
,
Hutfles, L.
,
Koppel, S.
,
Morris, J.
,
Burns, J. M.
,
Michaelis, M. L.
,
Michaelis, E. K.
,
Brooks, W. M.
,
Swerdlow, R
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.01 MB
Your tags:
english, 2014
5
Epigallocatechin-3-gallate and tetracycline differently affect ataxin-3 fibrillogenesis and reduce toxicity in spinocerebellar ataxia type 3 model
Bonanomi, M.
,
Natalello, A.
,
Visentin, C.
,
Pastori, V.
,
Penco, A.
,
Cornelli, G.
,
Colombo, G.
,
Malabarba, M. G.
,
Doglia, S. M.
,
Relini, A.
,
Regonesi, M. E.
,
Tortora, P.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 654 KB
Your tags:
english, 2014
6
Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
Wang, Z.
,
Zhu, B.
,
Zhang, M.
,
Parikh, H.
,
Jia, J.
,
Chung, C. C.
,
Sampson, J. N.
,
Hoskins, J. W.
,
Hutchinson, A.
,
Burdette, L.
,
Ibrahim, A.
,
Hautman, C.
,
Raj, P. S.
,
Abnet, C. C.
,
Adjei, A. A.
,
Ahlbom,
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 637 KB
Your tags:
english, 2014
7
Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cells
Huang, K.
,
Wu, Z.
,
Liu, Z.
,
Hu, G.
,
Yu, J.
,
Chang, K. H.
,
Kim, K.-P.
,
Le, T.
,
Faull, K. F.
,
Rao, N.
,
Gennery, A.
,
Xue, Z.
,
Wang, C.-y.
,
Pellegrini, M.
,
Fan, G.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.09 MB
Your tags:
english, 2014
8
A calcineurin- and NFAT-dependent pathway is involved in -synuclein-induced degeneration of midbrain dopaminergic neurons
Luo, J.
,
Sun, L.
,
Lin, X.
,
Liu, G.
,
Yu, J.
,
Parisiadou, L.
,
Xie, C.
,
Ding, J.
,
Cai, H.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 470 KB
Your tags:
english, 2014
9
SUCLG2 identified as both a determinator of CSF A 1-42 levels and an attenuator of cognitive decline in Alzheimer's disease
Ramirez, A.
,
van der Flier, W. M.
,
Herold, C.
,
Ramonet, D.
,
Heilmann, S.
,
Lewczuk, P.
,
Popp, J.
,
Lacour, A.
,
Drichel, D.
,
Louwersheimer, E.
,
Kummer, M. P.
,
Cruchaga, C.
,
Hoffmann, P.
,
Teunissen, C.
,
H
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 458 KB
Your tags:
english, 2014
10
The ras responsive transcription factor RREB1 is a novel candidate gene for type 2 diabetes associated end-stage kidney disease
Bonomo, J. A.
,
Guan, M.
,
Ng, M. C. Y.
,
Palmer, N. D.
,
Hicks, P. J.
,
Keaton, J. M.
,
Lea, J. P.
,
Langefeld, C. D.
,
Freedman, B. I.
,
Bowden, D. W.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 226 KB
Your tags:
english, 2014
11
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
Raimondo, A.
,
Chakera, A. J.
,
Thomsen, S. K.
,
Colclough, K.
,
Barrett, A.
,
De Franco, E.
,
Chatelas, A.
,
Demirbilek, H.
,
Akcay, T.
,
Alawneh, H.
,
Flanagan, S. E.
,
Van De Bunt, M.
,
Hattersley, A. T.
,
Gloy
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 334 KB
Your tags:
english, 2014
12
Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome
Yasui, D. H.
,
Gonzales, M. L.
,
Aflatooni, J. O.
,
Crary, F. K.
,
Hu, D. J.
,
Gavino, B. J.
,
Golub, M. S.
,
Vincent, J. B.
,
Schanen, N. C.
,
Olson, C. O.
,
Rastegar, M.
,
Lasalle, J. M.
Journal:
Human Molecular Genetics
Year:
2014
File:
PDF, 20 KB
Your tags:
2014
13
The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control
Athanasiou, D.
,
Bevilacqua, D.
,
Aguila, M.
,
McCulley, C.
,
Kanuga, N.
,
Iwawaki, T.
,
Paul Chapple, J.
,
Cheetham, M. E.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 868 KB
Your tags:
english, 2014
14
Subscription Page
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 38 KB
Your tags:
english, 2014
15
Cover Page
Journal:
Human Molecular Genetics
Year:
2014
File:
PDF, 511 KB
Your tags:
2014
16
Exploiting the interaction between Grp94 and aggregated myocilin to treat glaucoma
Stothert, A. R.
,
Suntharalingam, A.
,
Huard, D. J. E.
,
Fontaine, S. N.
,
Crowley, V. M.
,
Mishra, S.
,
Blagg, B. S. J.
,
Lieberman, R. L.
,
Dickey, C. A.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 742 KB
Your tags:
english, 2014
17
Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative
Hoffmann, T. J.
,
Tang, H.
,
Thornton, T. A.
,
Caan, B.
,
Haan, M.
,
Millen, A. E.
,
Thomas, F.
,
Risch, N.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 324 KB
Your tags:
english, 2014
18
De novo CNVs in bipolar affective disorder and schizophrenia
Georgieva, L.
,
Rees, E.
,
Moran, J. L.
,
Chambert, K. D.
,
Milanova, V.
,
Craddock, N.
,
Purcell, S.
,
Sklar, P.
,
McCarroll, S.
,
Holmans, P.
,
O'Donovan, M. C.
,
Owen, M. J.
,
Kirov, G.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 176 KB
Your tags:
english, 2014
19
Competing targets of microRNA-608 affect anxiety and hypertension
Hanin, G.
,
Shenhar-Tsarfaty, S.
,
Yayon, N.
,
Yau, Y. H.
,
Bennett, E. R.
,
Sklan, E. H.
,
Rao, D. C.
,
Rankinen, T.
,
Bouchard, C.
,
Geifman-Shochat, S.
,
Shifman, S.
,
Greenberg, D. S.
,
Soreq, H.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 19 KB
Your tags:
english, 2014
20
Contents Page
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 42 KB
Your tags:
english, 2014
21
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)
Patel, N.
,
Smith, L. L.
,
Faqeih, E.
,
Mohamed, J.
,
Gupta, V. A.
,
Alkuraya, F. S.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.20 MB
Your tags:
english, 2014
22
Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients
Hathout, Y.
,
Marathi, R. L.
,
Rayavarapu, S.
,
Zhang, A.
,
Brown, K. J.
,
Seol, H.
,
Gordish-Dressman, H.
,
Cirak, S.
,
Bello, L.
,
Nagaraju, K.
,
Partridge, T.
,
Hoffman, E. P.
,
Takeda, S.
,
Mah, J. K.
,
Henrics
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 465 KB
Your tags:
english, 2014
23
Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians
Hong, K.-W.
,
Lim, J. E.
,
Kim, J. W.
,
Tabara, Y.
,
Ueshima, H.
,
Miki, T.
,
Matsuda, F.
,
Cho, Y. S.
,
Kim, Y.
,
Oh, B.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 610 KB
Your tags:
english, 2014
24
Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription
Kumari, D.
,
Usdin, K.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 592 KB
Your tags:
english, 2014
25
TCF7L2 is a master regulator of insulin production and processing
Zhou, Y.
,
Park, S.-Y.
,
Su, J.
,
Bailey, K.
,
Ottosson-Laakso, E.
,
Shcherbina, L.
,
Oskolkov, N.
,
Zhang, E.
,
Thevenin, T.
,
Fadista, J.
,
Bennet, H.
,
Vikman, P.
,
Wierup, N.
,
Fex, M.
,
Rung, J.
,
Wollheim, C.
,
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1000 KB
Your tags:
english, 2014
26
Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations
Sano, M.
,
Kamitsuji, S.
,
Kamatani, N.
,
Hong, K.-W.
,
Han, B.-G.
,
Kim, Y.
,
Kim, J. W.
,
Aizawa, Y.
,
Fukuda, K.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 308 KB
Your tags:
english, 2014
27
Deficiency of Patched 1-induced Gli1 signal transduction results in astrogenesis in Swedish mutated APP transgenic mice
He, P.
,
Staufenbiel, M.
,
Li, R.
,
Shen, Y.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.04 MB
Your tags:
english, 2014
28
Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans
Du, M.
,
Auer, P. L.
,
Jiao, S.
,
Haessler, J.
,
Altshuler, D.
,
Boerwinkle, E.
,
Carlson, C. S.
,
Carty, C. L.
,
Chen, Y.-D. I.
,
Curtis, K.
,
Franceschini, N.
,
Hsu, L.
,
Jackson, R.
,
Lange, L. A.
,
Lettre, G.
,
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 305 KB
Your tags:
english, 2014
29
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome
Inoue, S.-i.
,
Moriya, M.
,
Watanabe, Y.
,
Miyagawa-Tomita, S.
,
Niihori, T.
,
Oba, D.
,
Ono, M.
,
Kure, S.
,
Ogura, T.
,
Matsubara, Y.
,
Aoki, Y.
Journal:
Human Molecular Genetics
Year:
2014
Language:
english
File:
PDF, 1.30 MB
Your tags:
english, 2014
1
Follow
this link
or find "@BotFather" bot on Telegram
2
Send /newbot command
3
Specify a name for your chatbot
4
Choose a username for the bot
5
Copy an entire last message from BotFather and paste it here
×
×