Výsledky vyhledávání - "Chu Hua Chang"

Akademický článek

Synaptic Vesicle Glycoprotein 2C: a role in Parkinson’s disease

Autor: Chu Hua Chang, Kah Leong Lim, Jia Nee Foo

Publikováno v: Frontiers in Cellular Neuroscience, Vol 18 (2024)

Synaptic Vesicle Glycoprotein 2C (SV2C), characterized by its selective expression in discrete brain regions such as the midbrain, has recently emerged as a promising player in Parkinson’s Disease (PD) – a debilitating neurodegenerative disorder

Externí odkaz: https://doaj.org/article/f74d3ec6ddc0448aa7d7ac27d8cb2611

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Identification of a novel homozygous missense (c.443A>T:p.N148I) mutation in BBS2 in a Kashmiri family with Bardet-Biedl syndrome

Autor: Syeda Ain-ul-Batool, Ansar Ahmed Abbasi, Rameez Nisar, Samina Sarwar, Zahid Azeem, Syed Akif Raza Kazmi, Abdul Wali, Ghazanfar Ali, Naheed Bashir Awan, Chu-Hua Chang, Zahid Latif, Madiha Khalid, Elaine GuoYan Chew, Abdul Nasir, Jia Nee Foo, Fazal-Ur Rehman, Abdul Hameed Khan, Wasim Akhtar

Publikováno v: BioMed Research International, Vol 2021 (2021)
BioMed Research International

Background: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive inherited disorder with distinctive clinical feature such as obesity, degeneration of retina, polydactyly, and renal abnormalities. The study was aimed at finding out the disease-c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411a3db32bd346641b7372225020a674
https://hdl.handle.net/10356/151083

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Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families

Autor: Chiea Chuen Khor, Ghazanfar Ali, Elaine GuoYan Chew, Naheed Bashir Awan, Jia Nee Foo, Musharraf Jelani, Abdul Waheed Khawaja, Farhat Rafique Kiani, Chu-Hua Chang

Publikováno v: The Journal of Gene Medicine. 22

Background Congenital atrichia (CA) is a rare form of irreversible alopecia with an autosomal recessive mode of inheritance. This form of hair loss is mainly associated with mutations in the human hairless (HR) gene located at chromosome 8p21.3. An a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bf14019e0bcd03dadf84bfd0040cb78
https://doi.org/10.1002/jgm.3167

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Akademický článek

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.

Autor: Ali, Ghazanfar, Sadia, Jia Nee Foo, Nasir, Abdul, Chu-Hua Chang, GuoYan Chew, Elaine, Latif, Zahid, Azeem, Zahid, Ain-ul-Batool, Syeda, Raza Kazmi, Syed Akif, Awan, Naheed Bashir, Khan, Abdul Hameed, Fazal-Ur-Rehman, Khalid, Madiha, Wali, Abdul, Sarwar, Samina, Akhtar, Wasim, Abbasi, Ansar Ahmed, Nisar, Rameez

Publikováno v: BioMed Research International; 2/23/2021, Vol. 2021, p1-9, 9p, 2 Color Photographs, 1 Diagram, 3 Charts, 1 Graph

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