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Article

11 Citations

5,998 Views

9 Pages

Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD)

Masoumeh Dehghan Manshadi,
Behnam Kamalidehghan,
Fatemeh Keshavarzi,
Omid Aryani,
Sepideh Dadgar,
Ahoora Arastehkani,
Mahdi Tondar,
Fatemeh Ahmadipour,
Goh Yong Meng and
Massoud Houshmand

Int. J. Mol. Sci.2015, 16(4), 6668-6676;https://doi.org/10.3390/ijms16046668

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24 March 2015

Background: Types A and B Niemann-Pick disease (NPD) are autosomal-recessive lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene. Methods: In ord...

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Article

29 Citations

8,063 Views

14 Pages

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients

Nika V. Petrova,
Nataliya Y. Kashirskaya,
Tatyana A. Vasilyeva,
Elena I. Kondratyeva,
Elena K. Zhekaite,
Anna Y. Voronkova,
Victoria D. Sherman,
Varvara A. Galkina,
Eugeny K. Ginter and
Sergey I. Kutsev
+ 2 authors

Genes2020, 11(5), 554;https://doi.org/10.3390/genes11050554

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15 May 2020

The distribution and frequency of the CFTR gene mutations vary considerably between countries and ethnic groups. Russians are an East Slavic ethnic groups are native to Eastern Europe. Russians, the most numerous people of the Russian Federation (RF)...

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Article

4 Citations

4,300 Views

13 Pages

Sex- and Age-Associated Differences in Genomic Alterations among Patients with Advanced Non-Small Cell Lung Cancer (NSCLC)

ErinMarie O. Kimbrough,
Julian A. Marin-Acevedo,
Leylah M. Drusbosky,
Ariana Mooradian,
Yujie Zhao,
Rami Manochakian and
Yanyan Lou

Cancers2024, 16(13), 2366;https://doi.org/10.3390/cancers16132366

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27 June 2024

Genomic mutations impact non-small cell lung cancer (NSCLC) biology. The influence of sex and age on the distribution of these alterations is unclear. We analyzed circulating-tumor DNA from individuals with advanced NSCLC from March 2018 to October 2...

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