NDRI: Publications

Rare Disease • 2013 • PLoS Genetics 9(12):e1003866. PMID: 24367268.

Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.

Axford MM, Wang YH, Nakamori M, Zannis-Hadjopoulos M, Thornton CA, Pearson CE

Full Article

Rare Disease • 2013 • Nature 501(7467): 380-384. PMID: 24025767.

Usp16 contributes to somatic stem-cell defects in Down's syndrome.

Adorno M, Sikandar S, Mitra SS, Kuo A, Nicolis Di Robilant B, Haro-Acosta V, Ouadah Y, Quarta M, Rodriguez J, Qian D, Reddy VM, Cheshier S, Garner CC, Clarke MF

Full Article

Rare Disease • 2013 • American Journal of Respiratory Cell and Molecular Biology 49(5): 704-709. PMID: 23947572.

Statins in lymphangioleiomyomatosis. Simvastatin and atorvastatin induce differential effects on tuberous sclerosis complex 2-null cell growth and signaling.

Atochina-Vasserman EN, Goncharov DA, Volgina AV, Milavec M, James ML, Krymskaya VP

Full Article

Rare Disease • 2013 • Journal of Histochemistry Cytochemistry 61(8): 580-590. PMID: 23609227.

Lymphatic endothelial differentiation in pulmonary lymphangioleiomyomatosis cells.

Davis JM, Hyjek E, Husain AN, Shen L, Jones J, Schuger LA

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Rare Disease • 2013 • Human Molecular Genetics 22(20): 4127-4135. PMID: 23740943.

Method for widespread microRNA-155 inhibition prolongs survival in ALS-model mice.

Koval ED, Shaner C, Zhang P, du Maine X, Fischer K, Tay J, Chau BN, Wu GF, Miller TM

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Rare Disease • 2012 • Science Translational Medicine 4(154): 154ra134. PMID: 23035046.

Prevention of Alveolar Destruction and Airspace Enlargement in a Mouse Model of Pulmonary Lymphangioleiomyomatosis (LAM).

Goncharova EA, Goncharov DA, Fehrenbach M, Khavin I, Ducka B, Hino O, Colby TV, Merrilees MJ, Haczku A, Albelda SM, Krymskaya VP

Full Article

Rare Disease • 2012 • The American Journal of Cardiology 110(12): 1820-1827. PMID: 23000103.

Relation of cytosolic iron excess to cardiomyopathy of Friedreich's ataxia.

Ramirez RL, Qian J, Santambrogio P, Levi S, Koeppen AH

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