Volume 2; Issue 1

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Rare Diseases
Volume 2; Issue 1

Rare Diseases

Volume 2; Issue 1

1

Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)

Ramos, Pilar, Karnezis, Anthony N, Hendricks, William P D, Wang, Yemin, Tembe, Waibhav, Zismann, Victoria L, Legendre, Christophe, Liang, Winnie S, Russell, Megan L, Craig, David W, Farley, John H, Mo

Journal:

Year:

2014

Language:

english

File:

PDF, 369 KB

english, 2014

2

The challenge in translating basic research discoveries to treatment of Huntington disease

Mochly-Rosen, Daria, Disatnik, Marie-Helene, Qi, Xin

Journal:

Year:

2014

Language:

english

File:

PDF, 1.53 MB

english, 2014

3

SETX sumoylation

Richard, Patricia, Manley, James L

Journal:

Year:

2014

Language:

english

File:

PDF, 1.22 MB

english, 2014

4

Roberts syndrome

Xu, Baoshan, Lu, Shuai, Gerton, Jennifer L

Journal:

Year:

2014

Language:

english

File:

PDF, 1.84 MB

english, 2014

5

Epistatic interactions between Chd7 and Fgf8 during cerebellar development

Basson, M Albert

Journal:

Year:

2014

Language:

english

File:

PDF, 228 KB

english, 2014

6

FUS-regulated RNA metabolism and DNA damage repair

Zhou, Yueqin, Liu, Songyan, Öztürk, Arzu, Hicks, Geoffrey G

Journal:

Year:

2014

Language:

english

File:

PDF, 2.42 MB

english, 2014

7

A Drosophila screen identifies neurofibromatosis-1 genetic modifiers involved in systemic and synaptic growth

Walker, James A, Bernards, André

Journal:

Year:

2014

Language:

english

File:

PDF, 403 KB

english, 2014

8

Differentiation defects in primary motoneurons from a SMARD1 mouse model that are insensitive to treatment with low dose PEGylated IGF1

Krieger, Frank, Metzger, Friedrich, Jablonka, Sibylle

Journal:

Year:

2014

Language:

english

File:

PDF, 809 KB

english, 2014

9

Drosophila as a potential model to ameliorate mutant Huntington-mediated cardiac amyloidosis

Trujillo, Adriana S, Ramos, Raul, Bodmer, Rolf, Bernstein, Sanford I, Ocorr, Karen, Melkani, Girish C

Journal:

Year:

2014

Language:

english

File:

PDF, 349 KB

english, 2014

10

Gene therapy for Wiskott-Aldrich Syndrome—Long-term reconstitution and clinical benefits, but increased risk for leukemogenesis

Braun, Christian Joerg, Witzel, Maximilian, Paruzynski, Anna, Boztug, Kaan, Kalle, Christof von, Schmidt, Manfred, Klein, Christoph

Journal:

Year:

2014

Language:

english

File:

PDF, 88 KB

english, 2014

11

SHP-1 and IL-1α conspire to provoke neutrophilic dermatoses

Lukens, John R, Kanneganti, Thirumala-Devi

Journal:

Year:

2014

Language:

english

File:

PDF, 1.36 MB

english, 2014

12

Using antisense technology to develop a novel therapy for α-1 antitrypsin deficient (AATD) liver disease and to model AATD lung disease

Guo, Shuling, Booten, Sheri L, Watt, Andrew, Alvarado, Luis, Freier, Susan M, Teckman, Jeffery H, McCaleb, Michael L, Monia, Brett P

Journal:

Year:

2014

Language:

english

File:

PDF, 328 KB

english, 2014

13

Pulling complexes out of complex diseases

Mohan, Ryan D, Abmayr, Susan M, Workman, Jerry L

Journal:

Year:

2014

Language:

english

File:

PDF, 556 KB

english, 2014

14

TDP-43—The key to understanding amyotrophic lateral sclerosis

Xu, Zuoshang, Yang, Chunxing

Journal:

Year:

2014

Language:

english

File:

PDF, 111 KB

english, 2014

15

Impaired striatal function in Huntington's disease is due to aberrant p75NTR signaling

Plotkin, Joshua L, Surmeier, D James

Journal:

Year:

2014

Language:

english

File:

PDF, 387 KB

english, 2014

16

Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias

Leddy, Holly A, McNulty, Amy L, Guilak, Farshid, Liedtke, Wolfgang

Journal:

Year:

2014

Language:

english

File:

PDF, 504 KB

english, 2014

17

The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome

Walz, Katherina, Young, Juan I

Journal:

Year:

2014

Language:

english

File:

PDF, 471 KB

english, 2014

18

Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) and the mutant zinc transporter ZIP13

Bin, Bum-Ho, Hojyo, Shintaro, Ryong Lee, Tae, Fukada, Toshiyuki

Journal:

Year:

2014

Language:

english

File:

PDF, 480 KB

english, 2014

19

Muscle-specific microRNAs as biomarkers of Duchenne Muscular Dystrophy progression and response to therapies

Giordani, L, Sandoná, M, Rotini, A, Puri, PL, Consalvi, S, Saccone, V

Journal:

Year:

2014

Language:

english

File:

PDF, 660 KB

english, 2014