The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review
Background. Clinical and natural heterogeneity is the main characteristic of inherited multisystem conditions with severe growth restriction. Nonetheless, the source of the originof these diseases are not completely investigated. Afore-mentioned afflictions are widespread among the population of Yak...
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ftunivsalford:oai:usir.salford.ac.uk:60104 2023-05-15T18:06:44+02:00 The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review Thong, JY Halim, A Li, Z Halim, M 2021-02-15 application/pdf http://usir.salford.ac.uk/id/eprint/60104/ http://usir.salford.ac.uk/id/eprint/60104/1/The%20Connection%20between%20Neuroblastoma%20Amplified%20Sequence%20Gene%20%28NBAS%29%20and%20the%20Short%20Stature%20Optic%20Atrophy%20Pelger%20Huet%20Anomaly%20Syndrome%20%28SOPH%29%20Literature%20Review.pdf https://www.ijisrt.com/the-connection-between-neuroblastoma-amplified-sequence-gene-nbas-and-the-short-statureopticatrophypelgerhuet-anomaly-syndrome-soph-literature-review en eng IJISRT Digital Library http://usir.salford.ac.uk/id/eprint/60104/1/The%20Connection%20between%20Neuroblastoma%20Amplified%20Sequence%20Gene%20%28NBAS%29%20and%20the%20Short%20Stature%20Optic%20Atrophy%20Pelger%20Huet%20Anomaly%20Syndrome%20%28SOPH%29%20Literature%20Review.pdf Thong, JY, Halim, A, Li, Z and Halim, M orcid:0000-0001-6328-8265 2021, 'The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review' , International Journal of Innovative Science and Research Technology, 6 (2) , pp. 52-61. cc_by_nc_4_0 http://usir.salford.ac.uk/id/eprint/60104/1/The%20Connection%20between%20Neuroblastoma%20Amplified%20Sequence%20Gene%20%28NBAS%29%20and%20the%20Short%20Stature%20Optic%20Atrophy%20Pelger%20Huet%20Anomaly%20Syndrome%20%28SOPH%29%20Literature%20Review.pdf:public CC-BY-NC Article NonPeerReviewed 2021 ftunivsalford 2022-03-01T22:18:31Z Background. Clinical and natural heterogeneity is the main characteristic of inherited multisystem conditions with severe growth restriction. Nonetheless, the source of the originof these diseases are not completely investigated. Afore-mentioned afflictions are widespread among the population of Yakuts, located in the Republic of Sakha, which belongs to Russian Federation. Among the Yakuts, these conditions remarked by acute postnatal development hindrance, brachydactyly, optic atrophy (impairment of visual acuteness and color reflection), Pelger-Huet incongruity of WBCs and craniofacial dysmorphism but with average level of intelligence (1). Other features encompass chronic liver failure, underdeveloped cheekbones, loose skin, skeletal deformities and diminished tissue turgor (2). Purpose of Study. The overall objective of this research paper is to locate the gene that causes SOPH disorder. Methods The study uses secondary data from scientific journals published in authoritative databases, PubMed indexed in this case. The journal articles provide scientific investigations and information about the SOPH disease, NBAS gene and other relevant themes. A population sample of 129 individuals from five published research journals was considered. Results All reviewed researches were coherent in connecting SOPH syndrome with NBAS gene mutations. Article in Journal/Newspaper Republic of Sakha Yakuts University of Salford Institutional Repository Huet ENVELOPE(20.413,20.413,69.693,69.693) Sakha |
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University of Salford Institutional Repository |
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ftunivsalford |
language |
English |
description |
Background. Clinical and natural heterogeneity is the main characteristic of inherited multisystem conditions with severe growth restriction. Nonetheless, the source of the originof these diseases are not completely investigated. Afore-mentioned afflictions are widespread among the population of Yakuts, located in the Republic of Sakha, which belongs to Russian Federation. Among the Yakuts, these conditions remarked by acute postnatal development hindrance, brachydactyly, optic atrophy (impairment of visual acuteness and color reflection), Pelger-Huet incongruity of WBCs and craniofacial dysmorphism but with average level of intelligence (1). Other features encompass chronic liver failure, underdeveloped cheekbones, loose skin, skeletal deformities and diminished tissue turgor (2). Purpose of Study. The overall objective of this research paper is to locate the gene that causes SOPH disorder. Methods The study uses secondary data from scientific journals published in authoritative databases, PubMed indexed in this case. The journal articles provide scientific investigations and information about the SOPH disease, NBAS gene and other relevant themes. A population sample of 129 individuals from five published research journals was considered. Results All reviewed researches were coherent in connecting SOPH syndrome with NBAS gene mutations. |
format |
Article in Journal/Newspaper |
author |
Thong, JY Halim, A Li, Z Halim, M |
spellingShingle |
Thong, JY Halim, A Li, Z Halim, M The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review |
author_facet |
Thong, JY Halim, A Li, Z Halim, M |
author_sort |
Thong, JY |
title |
The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review |
title_short |
The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review |
title_full |
The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review |
title_fullStr |
The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review |
title_full_unstemmed |
The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review |
title_sort |
connection between neuroblastoma amplified sequence gene (nbas) and the short stature-optic-atrophy-pelger-huet anomaly syndrome (soph) literature review |
publisher |
IJISRT Digital Library |
publishDate |
2021 |
url |
http://usir.salford.ac.uk/id/eprint/60104/ http://usir.salford.ac.uk/id/eprint/60104/1/The%20Connection%20between%20Neuroblastoma%20Amplified%20Sequence%20Gene%20%28NBAS%29%20and%20the%20Short%20Stature%20Optic%20Atrophy%20Pelger%20Huet%20Anomaly%20Syndrome%20%28SOPH%29%20Literature%20Review.pdf https://www.ijisrt.com/the-connection-between-neuroblastoma-amplified-sequence-gene-nbas-and-the-short-statureopticatrophypelgerhuet-anomaly-syndrome-soph-literature-review |
long_lat |
ENVELOPE(20.413,20.413,69.693,69.693) |
geographic |
Huet Sakha |
geographic_facet |
Huet Sakha |
genre |
Republic of Sakha Yakuts |
genre_facet |
Republic of Sakha Yakuts |
op_relation |
http://usir.salford.ac.uk/id/eprint/60104/1/The%20Connection%20between%20Neuroblastoma%20Amplified%20Sequence%20Gene%20%28NBAS%29%20and%20the%20Short%20Stature%20Optic%20Atrophy%20Pelger%20Huet%20Anomaly%20Syndrome%20%28SOPH%29%20Literature%20Review.pdf Thong, JY, Halim, A, Li, Z and Halim, M orcid:0000-0001-6328-8265 2021, 'The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review' , International Journal of Innovative Science and Research Technology, 6 (2) , pp. 52-61. |
op_rights |
cc_by_nc_4_0 http://usir.salford.ac.uk/id/eprint/60104/1/The%20Connection%20between%20Neuroblastoma%20Amplified%20Sequence%20Gene%20%28NBAS%29%20and%20the%20Short%20Stature%20Optic%20Atrophy%20Pelger%20Huet%20Anomaly%20Syndrome%20%28SOPH%29%20Literature%20Review.pdf:public |
op_rightsnorm |
CC-BY-NC |
_version_ |
1766178393824428032 |