Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Ikhlass Hadj Salem"'
Publikováno v:
Genetics and Molecular Biology, Vol 33, Iss 1, Pp 190-197 (2010)
In this study, we detected new sequence variations in LAMA2 and SGCG genes in 5 ethnic populations, and analysed their effect on enhancer composition and mRNA structure. PCR amplification and DNA sequencing were performed and followed by bioinformati
Externí odkaz:
https://doaj.org/article/1cafd46662c54790b170f4968070510e
Autor:
Hassen Kamoun, Fakhri Kallabi, Ikhlass Hadj Salem, Hadhami Ben Turkia, Neji Tebib, Amel Ben Chehida, Ghada Ben Salah, Leila Keskes
Publikováno v:
Neuroscience Research. 97:7-12
X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and adrenal cortex secondary to mutations in the ABCD1 gene that encodes a peroxisomal membrane protein: the adrenoleukodystrophy protein. The disease is characterized by h
Autor:
Hadhami Ben Turkia, Amel Ben Chehida, Fakhri Kallabi, Faiza Fakhfakh, Neji Tebib, Hassen Kamoun, Ikhlass Hadj Salem, Ghada Ben Salah
Publikováno v:
Neurodegenerative Diseases. 12:207-211
Background: X-linked adrenoleukodystrophy (X-ALD) is a recessive neurodegenerative disorder that affects the brain's white matter and is associated with adrenal insufficiency. It is characterized by an abnormal function of the peroxisomes, which lead
Autor:
Satz Mengensatzproduktion, Madakasira V. Padma, Philipp Mahlknecht, Klaus Seppi, Michael A. Schwarzschild, Neji Tebib, Gabor G. Kovacs, Arno Gasperi, Rajeswari R. Moganty, Heike Stockner, Vishnu Swarup, Ikhlass Hadj Salem, Imola Plangár, Fakhri Kallabi, Albert C. Ludolph, Dénes Zádori, Johann Willeit, Patrick Weydt, Péter Klivényi, Jason D. Warren, Druck Reinhardt Druck Basel, Werner Poewe, Amel Ben Chehida, Levente Szalárdy, Christoph Scherfler, Stefan Kiechl, Matthew P. Frosch, Thomas C. Burdett, Hassen Kamoun, Faiza Fakhfakh, Hadhami Ben Turkia, Gregorio Rungger, Cody A. Desjardins, Michael Nocker, Nikolaus R. McFarland, Ghada Ben Salah, László Vécsei, Achal Kumar Srivastava, Camilla N. Clark, Christoph Schmidauer
Publikováno v:
Neurodegenerative Diseases. 12:I-IV
Publikováno v:
Molecular Biology Reports. 39:7479-7486
Apoptosis of skeletal muscle fibers is a well-known event occurring in patients suffering from muscular dystrophies. In this study, we hypothesized that functional polymorphisms in genes involved in the mitochondrial apoptotic pathway might modulate
Publikováno v:
Journal of Human Genetics. 57:92-100
Recessive mutations of CAPN3 gene are reported to be responsible for limb girdle muscular dystrophy type 2A (LGMD2A). In all, 15-25% of intronic nucleotide changes identified in this gene were investigated by in silico analysis, but occasionally supp
Publikováno v:
Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 33, Issue: 1, Pages: 190-197, Published: 29 JAN 2010
Genetics and Molecular Biology, Vol 33, Iss 1, Pp 190-197 (2010)
Genetics and Molecular Biology v.33 n.1 2010
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 33, Issue: 1, Pages: 190-197, Published: 29 JAN 2010
Genetics and Molecular Biology, Vol 33, Iss 1, Pp 190-197 (2010)
Genetics and Molecular Biology v.33 n.1 2010
Sociedade Brasileira de Genética (SBG)
instacron:SBG
In this study, we detected new sequence variations in LAMA2 and SGCG genes in 5 ethnic populations, and analysed their effect on enhancer composition and mRNA structure. PCR amplification and DNA sequencing were performed and followed by bioinformati
Autor:
Houda Kanoun, Ikhlass Hadj Salem, Faical Jarraya, Hichem Mahfoudh, Faiza Fakhfakh, Jamil Hachicha, Yosr Chaabouni, Fatma Makni
Publikováno v:
Gene. 531(2)
Primary hyperoxaluria type 1 (PH1) is a severe autosomal recessive inherited disorder of glyoxylate metabolism caused by mutations in the AGXT gene on chromosome 2q37.3 that encodes the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase.
Autor:
Nadege, Kammoun Jellouli, Ikhlass Hadj, Salem, Emna, Ellouz, Nacim, Louhichi, Abdelaziz, tlili, Fatma, Kammoun, Chanez, Triki, Faiza, Fakhfakh, Meriam, Messeddi
Publikováno v:
Gene. 513(2)
Pelizaeus Merzbacher disease and Pelizaeus Merzbacher like disease (PMLD) are hypomyelinating leucodystrophies of the central nervous system (CNS) with a very similar phenotype. PMD is an X-linked recessive condition caused by mutations, deletion dup
Autor:
Lobna, Hadjkacem-Loukil, Hassen, Hadj-Kacem, Ikhlass, Hadj Salem, Ali, Bahloul, Faiza, Fakhfakh, Hammadi, Ayadi
Publikováno v:
Andrologia.
Azoospermia factor (AZF) deletions were associated with severe oligospermia and azoospermia with testicular histologies varying from maturation arrest (MA) to Sertoli cell-only (SCO) phenotypes. Abnormal androgen receptor (AR) structure or function h