Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Fakhri Kallabi"'
Autor:
Dhoha Ben Salah, Mouna Elleuch, Oumeyma Trimeche, Asma Zargni, Fakhri Kallabi, Salma Sakka, Fatma Mnif, Nabila Rekik, Nadia Charfi, Hassen Kamoun, Mouna Mnif Feki, Faten Hadj Kacem, Mohamed Abid
Publikováno v:
Annals of Child Neurology, Vol 32, Iss 2, Pp 130-134 (2024)
Purpose Allgrove syndrome, also known as “triple A” syndrome, is characterized by adrenal insufficiency, achalasia, and alacrimia. When neurological signs are also present, the condition is referred to as “4 A” syndrome. Methods We conducted
Externí odkaz:
https://doaj.org/article/047022b12fb7477588ee364b1bf1b2b8
Autor:
Amada El-Sabeh, Andreea-Mihaela Mlesnita, Iustin-Tiberius Munteanu, Iasmina Honceriu, Fakhri Kallabi, Razvan-Stefan Boiangiu, Marius Mihasan
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-13 (2023)
Abstract Background Paenarthrobacter nicotinovorans ATCC 49919 uses the pyridine-pathway to degrade nicotine and could provide a renewable source of precursors from nicotine-containing waste as well as a model for studying the molecular evolution of
Externí odkaz:
https://doaj.org/article/7bd75254578544ba8fc2a61522100585
Publikováno v:
Microbiology resource announcements. 11(6)
Paenarthrobacter nicotinovorans is a soil bacterium that uses the pyridine pathway to degrade nicotine. The genome of strain ATCC 49919 is composed of a ~4.3-Mbp chromosome and a ~165-kbp plasmid. The second strain, termed here nic- , is a cured deri
Autor:
Nadia Mahfoudh, Hassen Kamoun, Roger T. Engeli, Fakhri Kallabi, Bochra Ben Rhouma, Leila Keskes, Afif Ben Mahmoud, Alex Odermatt, Neila Belguith
Publikováno v:
The Journal of Steroid Biochemistry and Molecular Biology. 165:86-94
17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is expressed almost exclusively in the testis and converts Δ4-androstene-3,17-dione to testosterone. Mutations in the HSD17B3 gene causing 17β-HSD3 deficiency are responsible for a rare recessive
Autor:
Fakhri Kallabi, Bochra Ben Rhouma, Siwar Gargouri Baklouti, Rania Ghorbel, Rahma Felhi, Leila Keskes, Hassen Kamoun
Publikováno v:
Hormone Research in Paediatrics. 86:90-93
Background/Aims: Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency, achalasia, and alacrima. This syndrome is caused by mutations in the AAAS gene. A major splice site mutation c.1331+1G>A wa
Autor:
Mouna Tabebi, Ghada Ben Salah, Leila Keskes, Naziha Kaabechi, Fakhri Kallabi, Chahnez Triki, Hassen Kamoun, Emna Ellouz
Publikováno v:
Clinica Chimica Acta. 453:141-146
Introduction X-linked adrenoleukodystrophy is a neurodegenerative recessive disorder that affects the brain white matter and associated with adrenal insufficiency. It is characterized by an abnormal function of the peroxisomes, which leads to an accu
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
Autor:
Neji Tebib, Amel Ben Chehida, Ghada Ben Salah, Rahma Felhi, Fakhri Kallabi, Hassen Kamoun, Hadhami Ben Turkia, Mouna Tabebi, Leila Keskes
Publikováno v:
Biochemistry and cell biology = Biochimie et biologie cellulaire. 94(3)
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene, which encodes an ATP-binding cassette transporter protein, ALDP. The disease is characterized by increased concentrations of very long chain