Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Morteza Soleyman-Nejad"'
Autor:
Masoud Heidari, Morteza Soleyman-Nejad, Alireza Isazadeh, Mohammad Hossein Taskiri, Manzar Bolhassani, Nahid Sadighi, Zahra Shiri, Zahra Karimi, Mansour Heidari
Publikováno v:
Iranian Journal of Basic Medical Sciences, Vol 24, Iss 2, Pp 191-195 (2021)
Objective(s): The spondylo-meta-epiphyseal dysplasia (SMED) short limbs-hand type is a rare autosomal recessive disease, which is characterized by premature calcification leading to severe disproportionate short stature and various skeletal changes.
Externí odkaz:
https://doaj.org/article/81a77d87606c4ab19dc3e915dd777e27
Autor:
Masoud Heidari, Morteza Soleyman‐Nejad, Alireza Isazadeh, Javad Shapouri, Mohammad Hossein Taskhiri, Roghayyeh Ahangari, Ali Reza Mohamadi, Masoumeh Ebrahimi, Hadi Karimi, Manzar Bolhassani, Zahra Karimi, Mansour Heidari
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background 3‐Hydroxy‐3‐methylglutaryl‐CoA (HMG‐CoA) synthase 2 gene (HMGCS2) encodes a mitochondrial enzyme catalyzing the first reaction of ketogenesis metabolic pathway which provides lipid‐derived energy for various organs dur
Externí odkaz:
https://doaj.org/article/bdb1b633aac84a39b89ebd8b95ef2dfe
Autor:
Masoud Heidari, Morteza Soleyman-Nejad, Mohammad Hossein Taskhiri, Alireza Isazadeh, Manzar Bolhassan, Javad Shahpouri, Mansour Heidari, Nahid Sadighi
Publikováno v:
Acta Medica Iranica, Vol 57, Iss 8 (2020)
The Syntaxin Binding Protein 1 (STXBP1) plays an important role in regulating neurotransmitter release and synaptic vesicle fusion through binding to syntaxin-1A (STX1A) and changing its conformation. In this study, we identified a de novo mutation (
Externí odkaz:
https://doaj.org/article/71b5cfa83ab847de819f95ebfcc8969c
Autor:
Nahid Sadighi, Javad Shapouri, Morteza Soleyman-Nejad, Mansour Heidari, Alireza Isazadeh, Mohammad Hossein Taskhiri, Hamid Gharshasbi, Manzar Bolhassani, Masoud Heidari
Publikováno v:
Current Genomics. 22:232-236
Background: Polycystic kidney disease (PKD) is an autosomal recessive disorder resulting from mutations in the PKHD1 gene on chromosome 6 (6p12), a large gene spanning 470 kb of genomic DNA. Objective: The aim of the present study was to report newly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::599b46bf9994babf332fecedf12c5cfb
https://doi.org/10.2174/1389202922666210219111810
https://doi.org/10.2174/1389202922666210219111810
Autor:
Ali Reza Mohamadi, Mansour Heidari, Morteza Soleyman-Nejad, Masoud Heidari, Alireza Isazadeh, Zahra Karimi, Javad Shahpouri, Masoumeh Ebrahimi, Manzar Bolhassani, Roghayyeh Ahangari, Hadi Karimi, Mohammad Hossein Taskhiri
Publikováno v:
Current Genomics. 20:531-534
Background: Ataxia telangiectasia (AT) is one of the most common autosomal recessive hereditary ataxia presenting in childhood. The responsible gene for AT designated ATM (AT, mutated) encodes a protein which is involved in cell cycle checkpoints and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5ff5c35525e211629800e1d6987ddb9
https://doi.org/10.2174/1389202920666191107153734
https://doi.org/10.2174/1389202920666191107153734
Autor:
Hadi Karimi, Javad Shapouri, Ali Reza Mohamadi, Morteza Soleyman-Nejad, Manzar Bolhassani, Roghayyeh Ahangari, Mohammad Hossein Taskhiri, Mansour Heidari, Masoumeh Ebrahimi, Masoud Heidari, Zahra Karimi, Alireza Isazadeh
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background 3‐Hydroxy‐3‐methylglutaryl‐CoA (HMG‐CoA) synthase 2 gene (HMGCS2) encodes a mitochondrial enzyme catalyzing the first reaction of ketogenesis metabolic pathway which provides lipid‐derived energy for various organs during times
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a43339fb5a7dfcb9120db7448b8e99a
https://doaj.org/article/bdb1b633aac84a39b89ebd8b95ef2dfe
https://doaj.org/article/bdb1b633aac84a39b89ebd8b95ef2dfe
Autor:
Masoud, Heidari, Hamid, Gharshasbi, Alireza, Isazadeh, Morteza, Soleyman-Nejad, Mohammad Hossein, Taskhiri, Javad, Shapouri, Manzar, Bolhassani, Nahid, Sadighi, Mansour, Heidari
Publikováno v:
Current genomics. 22(3)
Polycystic kidney disease (PKD) is an autosomal recessive disorder resulting from mutations in theThe aim of the present study was to report newly identified mutations in theGenetic alterations of a 3-month-old boy and a 27-year-old girl with PKD wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::72ce7aff447d58175ed724dd12b545d1
https://pubmed.ncbi.nlm.nih.gov/34975292
https://pubmed.ncbi.nlm.nih.gov/34975292