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1. Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia

Author

Kentab, Amal, Muddathir, H.H., Salih, M.A., Mushiba, Aziza M., Zada, A.P., Bamajboor, Mohammed S., Zameer, Sadique, AlBassam, Fahad, Mahmoud, Adel, Alnawfal, A.A., AlAmr, Mushari, Bawazir, Maryam, Al Rumayyan, Ahmed, Al-Twaijri, Waleed, Alrifai, Muhammed Talal, Al Hajjaj, Sumayah, Saleh, Mohammed M., Hamhom, Abdulrahim M., Al-Otaibi, Ali, AlGhamdi, Malak, Housawi, Yousef, Aljadhai, Yaser I., Alameer, Seham, Almannai, Mohammed, Jad, Lamyaa A., Alwadei, Ali H., Tabassum, Sadia, Alsaman, Abdulaziz, AlAsmari, Ali, Al Mutairi, Fuad, Althiyab, Hamad, Bashiri, Fahad A., AlHumaidi, Suzan, Alfadhel, Majid, Mink, Jonathan W., AlHashim, Aqeela, and Faqeih, Eissa A.

Published
2024
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3. Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia

Author

Saleh, Mohammed M., primary, Hamhom, Abdulrahim M., additional, Al-Otaibi, Ali, additional, AlGhamdi, Malak, additional, Housawi, Yousef, additional, Aljadhai, Yaser I., additional, Alameer, Seham, additional, Almannai, Mohammed, additional, Jad, Lamyaa A., additional, Alwadei, Ali H., additional, Tabassum, Sadia, additional, Alsaman, Abdulaziz, additional, AlAsmari, Ali, additional, Al Mutairi, Fuad, additional, Althiyab, Hamad, additional, Bashiri, Fahad A., additional, AlHumaidi, Suzan, additional, Alfadhel, Majid, additional, Mink, Jonathan W., additional, AlHashim, Aqeela, additional, Faqeih, Eissa A., additional, Kentab, Amal, additional, Muddathir, H.H., additional, Salih, M.A., additional, Mushiba, Aziza M., additional, Zada, A.P., additional, Bamajboor, Mohammed S., additional, Zameer, Sadique, additional, AlBassam, Fahad, additional, Mahmoud, Adel, additional, Alnawfal, A.A., additional, AlAmr, Mushari, additional, Bawazir, Maryam, additional, Al Rumayyan, Ahmed, additional, Al-Twaijri, Waleed, additional, Alrifai, Muhammed Talal, additional, and Al Hajjaj, Sumayah, additional

Published
2024
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21. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Author

Perenthaler, E., Nikoncuk, A., Yousefi, S., Berdowski, W.M., Alsagob, M., Capo, I., Linde, H.C. van der, Berg, P. van den, Jacobs, E.H., Putar, D., Ghazvini, M., Aronica, E., van, I.W.F., Valk, W.G. de, Herik, E. Medici-van den, Slegtenhorst, M. van, Brick, L., Kozenko, M., Kohler, J.N., Bernstein, J.A., Monaghan, K.G., Begtrup, A., Torene, R., Futaisi, A. Al, Murshedi, F. Al, Mani, R., Azri, F. Al, Kamsteeg, E.J., Mojarrad, M., Eslahi, A., Khazaei, Z., Darmiyan, F.M., Doosti, M., Karimiani, E.G., Vandrovcova, J., Zafar, F., Rana, N., Kandaswamy, K.K., Hertecant, J., Bauer, P., AlMuhaizea, M.A., Salih, M.A., Aldosary, M., Almass, R., Al-Quait, L., Qubbaj, W., Coskun, S., Alahmadi, K.O., Hamad, M.H.A., Alwadaee, S., Awartani, K., Dababo, A.M., Almohanna, F., Colak, D., Dehghani, M., Mehrjardi, M.Y.V., Gunel, M., Ercan-Sencicek, A.G., Passi, G.R., Cheema, H.A., Efthymiou, S., Houlden, H., Bertoli-Avella, A.M., Brooks, A.S., Retterer, K., Maroofian, R., Kaya, N., Ham, T.J. van, Barakat, T.S., Perenthaler, E., Nikoncuk, A., Yousefi, S., Berdowski, W.M., Alsagob, M., Capo, I., Linde, H.C. van der, Berg, P. van den, Jacobs, E.H., Putar, D., Ghazvini, M., Aronica, E., van, I.W.F., Valk, W.G. de, Herik, E. Medici-van den, Slegtenhorst, M. van, Brick, L., Kozenko, M., Kohler, J.N., Bernstein, J.A., Monaghan, K.G., Begtrup, A., Torene, R., Futaisi, A. Al, Murshedi, F. Al, Mani, R., Azri, F. Al, Kamsteeg, E.J., Mojarrad, M., Eslahi, A., Khazaei, Z., Darmiyan, F.M., Doosti, M., Karimiani, E.G., Vandrovcova, J., Zafar, F., Rana, N., Kandaswamy, K.K., Hertecant, J., Bauer, P., AlMuhaizea, M.A., Salih, M.A., Aldosary, M., Almass, R., Al-Quait, L., Qubbaj, W., Coskun, S., Alahmadi, K.O., Hamad, M.H.A., Alwadaee, S., Awartani, K., Dababo, A.M., Almohanna, F., Colak, D., Dehghani, M., Mehrjardi, M.Y.V., Gunel, M., Ercan-Sencicek, A.G., Passi, G.R., Cheema, H.A., Efthymiou, S., Houlden, H., Bertoli-Avella, A.M., Brooks, A.S., Retterer, K., Maroofian, R., Kaya, N., Ham, T.J. van, and Barakat, T.S.

Abstract

Contains fulltext : 218287.pdf (Publisher’s version ) (Open Access), Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting with a severe form of intractable epilepsy, severe developmental delay, progressive microcephaly, visual disturbance and similar minor dysmorphisms. Whole exome sequencing identified a recurrent, homozygous variant (chr2:64083454A > G) in the essential UDP-glucose pyrophosphorylase (UGP2) gene in all probands. This rare variant results in a tolerable Met12Val missense change of the longer UGP2 protein isoform but causes a disruption of the start codon of the shorter isoform, which is predominant in brain. We show that the absence of the shorter isoform leads to a reduction of functional UGP2 enzyme in neural stem cells, leading to altered glycogen metabolism, upregulated unfolded protein response and premature neuronal differentiation, as modeled during pluripotent stem cell differentiation in vitro. In contrast, the complete lack of all UGP2 isoforms leads to differentiation defects in multiple lineages in human cells. Reduced expression of Ugp2a/Ugp2b in vivo in zebrafish mimics visual disturbance and mutant animals show a behavioral phenotype. Our study identifies a recurrent start codon mutation in UGP2 as a cause of a novel autosomal recessive DEE syndrome. Importantly, it also shows that isoform-specific start-loss mutations causing expression loss of a tissue-relevant isoform of an essential protein can cause a genetic disease, even when an organism-wide protein absence is incompatible with life. We provide additional examples where a similar disease mechanism applies.

Published
2020

25. Other identities: politics of Sudanese discursive narratives

Author

Salih, M.A. Mohamed

Subjects
Sudan -- Social policy, Sudanese -- Political activity, Nationalism -- Social aspects, Ethnic, cultural, racial issues/studies
Abstract

The dichotomy of contemporary Sudanese political discourse is negatively impacting the state, its various ethnic groups and its social development. The country's two separate identities, one public and the other private, are interfering with the creation of a unified yet culturally diverse society. Public and private sector theorists propose mutually exclusive interpretations of Sudanese identity, denying an opportunity for constructive dialogue between the state and its multicultural citizenry.

Published
1998

26. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Author

Perenthaler, E. (Elena), Nikoncuk, A. (Anita), Yousefi, S. (Soheil), Berdowski, W.M. (Woutje M.), Alsagob, M. (Maysoon), Capo, I. (Ivan), Linde, H.C. (Herma) van der, van den Berg, P. (Paul), Jacobs, E.H. (Edwin H.), Putar, D. (Darija), Ghazvini, M. (Mehrnaz), Aronica, E.M.A. (Eleonora), IJcken, W.F.J. (Wilfred) van, de Valk, W.G. (Walter G.), Medici-van den Herik, E. (Evita), Slegtenhorst, M.A. (Marjon) van, Brick, L. (Lauren), Kozenko, M. (Mariya), Kohler, J.N. (Jennefer N.), Bernstein, J.A. (Jonathan A.), Monaghan, K.G. (Kristin G.), Begtrup, A. (Amber), Torene, R. (Rebecca), Al Futaisi, A. (Amna), Al Murshedi, F. (Fathiya), Mani, R. (Renjith), Al Azri, F. (Faisal), Kamsteeg, E.J. (Erik-Jan), Mojarrad, M. (Majid), Eslahi, A. (Atieh), Khazaei, Z. (Zaynab), Darmiyan, F.M. (Fateme Massinaei), Doosti, M. (Mohammad), Karimiani, E.G. (Ehsan Ghayoor), Vandrovcova, J. (Jana), Zafar, F. (Faisal), Rana, N. (Nuzhat), Kandaswamy, K.K. (Krishna K.), Hertecant, J. (Jozef), Bauer, P. (Peter), AlMuhaizea, M.A. (Mohammed A.), Salih, M.A. (Mustafa A.), Aldosary, M. (Mazhor), Almass, R. (Rawan), Al-Quait, L. (Laila), Qubbaj, W. (Wafa), Coskun, S. (Serdar), Alahmadi, K.O. (Khaled O.), Hamad, M.H.A. (Muddathir H. A.), Alwadaee, S. (Salem), Awartani, K. (Khalid), Dababo, A.M. (Anas M.), Almohanna, F. (Futwan), Colak, D. (Dilek), Dehghani, M. (Mohammadreza), Mehrjardi, M.Y.V. (Mohammad Yahya Vahidi), Günel, M. (Murat), Ercan-Sencicek, A.G. (A. Gulhan), Passi, G.R. (Gouri Rao), Cheema, H.A. (Huma Arshad), Efthymiou, S. (Stephanie), Houlden, H. (Henry), Bertoli Avella, A.M. (Aida), Brooks, A.S. (Alice), Retterer, K. (Kyle), Maroofian, R. (Reza), Kaya, N. (Namik), Ham, T.J. (Tjakko) van, Barakat, T.S. (Tahsin Stefan), Perenthaler, E. (Elena), Nikoncuk, A. (Anita), Yousefi, S. (Soheil), Berdowski, W.M. (Woutje M.), Alsagob, M. (Maysoon), Capo, I. (Ivan), Linde, H.C. (Herma) van der, van den Berg, P. (Paul), Jacobs, E.H. (Edwin H.), Putar, D. (Darija), Ghazvini, M. (Mehrnaz), Aronica, E.M.A. (Eleonora), IJcken, W.F.J. (Wilfred) van, de Valk, W.G. (Walter G.), Medici-van den Herik, E. (Evita), Slegtenhorst, M.A. (Marjon) van, Brick, L. (Lauren), Kozenko, M. (Mariya), Kohler, J.N. (Jennefer N.), Bernstein, J.A. (Jonathan A.), Monaghan, K.G. (Kristin G.), Begtrup, A. (Amber), Torene, R. (Rebecca), Al Futaisi, A. (Amna), Al Murshedi, F. (Fathiya), Mani, R. (Renjith), Al Azri, F. (Faisal), Kamsteeg, E.J. (Erik-Jan), Mojarrad, M. (Majid), Eslahi, A. (Atieh), Khazaei, Z. (Zaynab), Darmiyan, F.M. (Fateme Massinaei), Doosti, M. (Mohammad), Karimiani, E.G. (Ehsan Ghayoor), Vandrovcova, J. (Jana), Zafar, F. (Faisal), Rana, N. (Nuzhat), Kandaswamy, K.K. (Krishna K.), Hertecant, J. (Jozef), Bauer, P. (Peter), AlMuhaizea, M.A. (Mohammed A.), Salih, M.A. (Mustafa A.), Aldosary, M. (Mazhor), Almass, R. (Rawan), Al-Quait, L. (Laila), Qubbaj, W. (Wafa), Coskun, S. (Serdar), Alahmadi, K.O. (Khaled O.), Hamad, M.H.A. (Muddathir H. A.), Alwadaee, S. (Salem), Awartani, K. (Khalid), Dababo, A.M. (Anas M.), Almohanna, F. (Futwan), Colak, D. (Dilek), Dehghani, M. (Mohammadreza), Mehrjardi, M.Y.V. (Mohammad Yahya Vahidi), Günel, M. (Murat), Ercan-Sencicek, A.G. (A. Gulhan), Passi, G.R. (Gouri Rao), Cheema, H.A. (Huma Arshad), Efthymiou, S. (Stephanie), Houlden, H. (Henry), Bertoli Avella, A.M. (Aida), Brooks, A.S. (Alice), Retterer, K. (Kyle), Maroofian, R. (Reza), Kaya, N. (Namik), Ham, T.J. (Tjakko) van, and Barakat, T.S. (Tahsin Stefan)

Abstract

Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting with a severe form of intractable epilepsy, severe developmental delay, progressive microcephaly, visual disturbance and similar minor dysmorphisms. Whole exome sequencing identified a recurrent, homozygous variant (chr2:64083454A > G) in the essential UDP-glucose pyrophosphorylase (UGP2) gene in all probands. This rare variant results in a tolerable Met12Val missense change of the longer UGP2 protein isoform but causes a disruption of the start codon of the shorter isoform, which is predominant in brain. We show that the absence of the shorter isoform leads to a reduction of functional UGP2 enzyme in neural stem cells, leading to altered glycogen metabolism, upregulated unfolded protein response and premature neuronal differentiation, as modeled during pluripotent stem cell differentiation in vitro. In contrast, the complete lack of all UGP2 isoforms leads to differentiation defects in multiple lineages in human cells. Reduced expression of Ugp2a/Ugp2b in vivo in zebrafish mimics visual disturbance and mutant animals show a behavioral phenotype. Our study identifies a recurrent start codon mutation in UGP2 as a cause of a novel autosomal recessive DEE syndrome. Importantly, it also shows that isoform-specific start-loss mutations causing expression loss of a tissue-relevant isoform of an essential protein can cause a genetic disease, even when an organism-wide protein absence is incompatible with

Published
2019
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27. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Author

Meester, J.A.N., Sukalo, M., Schröder, K.C., Schanze, D., Baynam, G., Borck, G., Bramswig, N.C., Duman, D., Gilbert-Dussardier, B., Holder-Espinasse, M., Itin, P., Johnson, D.S., Joss, S., Koillinen, H., McKenzie, F., Morton, J., Nelle, H., Reardon, W., Roll, C., Salih, M.A., Savarirayan, R., Scurr, I., Splitt, M., Thompson, E., Titheradge, H., Travers, C.P., Van Maldergem, L., Whiteford, M., Wieczorek, D., Vandeweyer, G., Trembath, R., Van Laer, L., Loeys, B.L., Zenker, M., Southgate, L., Wuyts, W., Meester, J.A.N., Sukalo, M., Schröder, K.C., Schanze, D., Baynam, G., Borck, G., Bramswig, N.C., Duman, D., Gilbert-Dussardier, B., Holder-Espinasse, M., Itin, P., Johnson, D.S., Joss, S., Koillinen, H., McKenzie, F., Morton, J., Nelle, H., Reardon, W., Roll, C., Salih, M.A., Savarirayan, R., Scurr, I., Splitt, M., Thompson, E., Titheradge, H., Travers, C.P., Van Maldergem, L., Whiteford, M., Wieczorek, D., Vandeweyer, G., Trembath, R., Van Laer, L., Loeys, B.L., Zenker, M., Southgate, L., and Wuyts, W.

Abstract

Adams–Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DOCK6 and EOGT underlie autosomal recessive inheritance. Data on the frequency and distribution of mutations in large cohorts are currently limited. The purpose of this study was therefore to comprehensively examine the genetic architecture of AOS in an extensive cohort. Molecular diagnostic screening of 194 AOS/ACC/TTLD probands/families was conducted using next‐generation and/or capillary sequencing analyses. In total, we identified 63 (likely) pathogenic mutations, comprising 56 distinct and 22 novel mutations, providing a molecular diagnosis in 30% of patients. Taken together with previous reports, these findings bring the total number of reported disease variants to 63, with a diagnostic yield of 36% in familial cases. NOTCH1 is the major contributor, underlying 10% of AOS/ACC/TTLD cases, with DLL4 (6%), DOCK6 (6%), ARHGAP31 (3%), EOGT (3%), and RBPJ (2%) representing additional causality in this cohort. We confirm the relevance of genetic screening across the AOS/ACC/TTLD spectrum, highlighting preliminary but important genotype–phenotype correlations. This cohort offers potential for further gene identification to address missing heritability.

Published
2018

28. Genetic investigation of 93 families with microphthalmia or posterior microphthalmos

Author

Patel, N., primary, Khan, A.O., additional, Alsahli, S., additional, Abdel-Salam, G., additional, Nowilaty, S.R., additional, Mansour, A.M., additional, Nabil, A., additional, Al-Owain, M., additional, Sogati, S., additional, Salih, M.A., additional, Kamal, A.M., additional, Alsharif, H., additional, Alsaif, H.S., additional, Alzahrani, S.S., additional, Abdulwahab, F., additional, Ibrahim, N., additional, Hashem, M., additional, Faquih, T., additional, Shah, Z.A., additional, Abouelhoda, M., additional, Monies, D., additional, Dasouki, M., additional, Shaheen, R., additional, Wakil, S.M., additional, Aldahmesh, M.A., additional, and Alkuraya, F.S., additional

Published
2018
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29. New Findings in a Global Approach to Dissect the Whole Phenotype of Gene Mutations

Author

Salih, M.A., Mundwiller, E., Khan, A.O., AlDrees, A., Elmalik, S.A., Hassan, H.H., Al-Owain, M., Alkhalidi, H.M., Katona, I., Kabiraj, M.M., Chrast, R., Kentab, A.Y., Alzaidan, H., Rodenburg, R.J.T., Bosley, T.M., Weis, J., Koenig, M., Stevanin, G., and Azzedine, H.

Subjects
Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial medicine [IGMD 8]
Abstract

Contains fulltext : 125509.pdf (Publisher’s version ) (Open Access) [This corrects the article on p. e76831 in vol. 8.].

Published
2013

30. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

Author

Gai, X., Ghezzi, D., Johnson, M.A., Biagosch, C., Shamseldin, H.E., Haack, T.B., Reyes, A., Tsukikawa, M., Sheldon, C.A., Srinivasan, S., Gorza, M., Kremer, L.S., Wieland, T., Strom, T.M., Polyak, E., Place, E., Consugar, M., Ostrovsky, J., Vidoni, S., Robinson, A.J., Wong, L.J., Sondheimer, N., Salih, M.A., Al-Jishi, E., Raab, C.P., Bean, C., Furlan, F., Parini, R., Lamperti, C., Mayr, J.A., Konstantopoulou, V., Huemer, M.-T., Pierce, E.A., Meitinger, T., Freisinger, P., Sperl, W., Prokisch, H., Alkuraya, F.S., Falk, M.J., and Zeviani, M.

Abstract

Whole-exome sequencing and autozygosity mapping studies, independently performed in subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a total of nine disease-segregating FBXL4 mutations in seven unrelated mitochondrial disease families, composed of six singletons and three siblings. All subjects manifested early-onset lactic acidemia, hypotonia, and developmental delay caused by severe encephalomyopathy consistently associated with progressive cerebral atrophy and variable involvement of the white matter, deep gray nuclei, and brainstem structures. A wide range of other multisystem features were variably seen, including dysmorphism, skeletal abnormalities, poor growth, gastrointestinal dysmotility, renal tubular acidosis, seizures, and episodic metabolic failure. Mitochondrial respiratory chain deficiency was present in muscle or fibroblasts of all tested individuals, together with markedly reduced oxygen consumption rate and hyperfragmentation of the mitochondrial network in cultured cells. In muscle and fibroblasts from several subjects, substantially decreased mtDNA content was observed. FBXL4 is a member of the F-box family of proteins, some of which are involved in phosphorylation-dependent ubiquitination and/or G protein receptor coupling. We also demonstrate that FBXL4 is targeted to mitochondria and localizes in the intermembrane space, where it participates in an approximately 400kDa protein complex. These data strongly support a role for FBXL4 in controlling bioenergetic homeostasis and mtDNA maintenance. FBXL4 mutations are a recurrent cause of mitochondrial encephalomyopathy onset in early infancy.

Published
2013

31. Transnational Islamist (Jihadist) Movements and Inter-State Conflicts in the Horn of Africa

Author

Salih, M.A. Mohamed

Subjects
Religious movements, Political Science (excluding Public Administration Studies and Globalisation Studies), Regional security, Horn of Africa, Regional conflicts, Political Islam, Statsvetenskap (exklusive studier av offentlig förvaltning och globaliseringsstudier)
Abstract

Somalia has engendered the policy debate on the extent of the spread of transnational Islamist Jihadist groups in the Horn of Africa (HOA) and their consequences for peace and security across the region. These concerns are justified given the emergence since the late 1980s of extremist groups such as the Eritrean Islamic Jihad Movement and the Somali Jihadist Islamist groups of the likes of Al-Ittihad, the Islamic Courts Union and currently Al Shabab. The leaders and fighters of these groups relocated to the HOA after the defeat of the Taliban following the 2001 US invasion of Afghanistan. The operations of these transnational Islamist groups within and across the countries of the Horn pose serious challenges to the region and beyond.

Published
2011

32. Megalencephalic Leukoencephalopathy with Cysts without MLC1 Defect Two Phenotypes

Author

van der Knaap, M.S., Lai, V., Kohler, W., Salih, M.A., Fonseca, M.J., Benke, T.A., Wilson, C., Jayakar, P., Aine, M.R., Dom, L., Lynch, B., Kalmanchey, R., Pietsch, P., Errami, A., Scheper, G.C., Neuroscience Campus Amsterdam - Childhood White Matter Diseases, Pediatric surgery, and NCA - Childhood White Matter Diseases

Subjects
SDG 3 - Good Health and Well-being
Abstract

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues. Approximately 80% of MLC patients have mutations in MLC1. We report 16 MLC patients without MLC1 mutations. Eight retained the classical clinical and MRI phenotype. The other 8 showed major MRI improvement. They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non-MLC1 mutated MLC patients: a classical and a benign phenotype.

Published
2010

33. Introduction

Author

de Gaay Fortman, B., Martens, K., Mohamed Salih, M.A., UU LEG LAW Landelijke Onderzoekschool Rechten van de Mens, UU LEG Research LAW Human Rights in a world of conflict and diversity, and Afd internationaal en Europees recht

Published
2010

35. Introduction

Author

Salih, Mohamed, Gaay Fortman, B, Martens, K, Gaay Fortman, Bas de, Martens, K., Salih, M.A., and International Institute of Social Studies

Published
2009

44. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Author

Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A.A., Collins, F., Salih, M.A., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., Baudouin, V., Oud, M.M., Shannon, N., Le Merrer, M., Roche, O., Pietrement, C., Goumid, J., Baumann, C., Bole-Feysot, C., Nitschke, P., Zahrate, M., Beales, P., Arts, H.H., Munnich, A., Kaplan, J., Antignac, C., Cormier-Daire, V., Rozet, J.M., Perrault, I., Saunier, S., Hanein, S., Filhol, E., Bizet, A.A., Collins, F., Salih, M.A., Gerber, S., Delphin, N., Bigot, K., Orssaud, C., Silva, E., Baudouin, V., Oud, M.M., Shannon, N., Le Merrer, M., Roche, O., Pietrement, C., Goumid, J., Baumann, C., Bole-Feysot, C., Nitschke, P., Zahrate, M., Beales, P., Arts, H.H., Munnich, A., Kaplan, J., Antignac, C., Cormier-Daire, V., and Rozet, J.M.

Abstract

Item does not contain fulltext, Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.

Published
2012

45. Introduction

Author

UU LEG LAW Landelijke Onderzoekschool Rechten van de Mens, UU LEG Research LAW Human Rights in a world of conflict and diversity, Afd internationaal en Europees recht, de Gaay Fortman, B., Martens, K., Mohamed Salih, M.A., UU LEG LAW Landelijke Onderzoekschool Rechten van de Mens, UU LEG Research LAW Human Rights in a world of conflict and diversity, Afd internationaal en Europees recht, de Gaay Fortman, B., Martens, K., and Mohamed Salih, M.A.

Published
2010

46. Religious identity, difference and human rights: The crucial role of hermeneutics

Author

UU LEG LAW Landelijke Onderzoekschool Rechten van de Mens, UU LEG Research LAW Human Rights in a world of conflict and diversity, Afd internationaal en Europees recht, de Gaay Fortman, B., Mohamed Salih, M.A., Martens, K., Mohamed Salih, M. A., UU LEG LAW Landelijke Onderzoekschool Rechten van de Mens, UU LEG Research LAW Human Rights in a world of conflict and diversity, Afd internationaal en Europees recht, de Gaay Fortman, B., Mohamed Salih, M.A., Martens, K., and Mohamed Salih, M. A.

Published
2010

47. Religious Texts as Models of Exclusion.:Scriptural Interpretation and Ethnic Politics in Northern Nigeria

Author

de Gaay Fortman, Bas, Martens, Kurt, Salih, M.A. Mohamed, Kastfelt, Niels, de Gaay Fortman, Bas, Martens, Kurt, Salih, M.A. Mohamed, and Kastfelt, Niels

Abstract

Kapitlet handler om sammenhængen mellm bibeltolkning og tilblivelsen af politiske fællesskaber i det nordlige Nigeria i det 20. århundrede. Overordnet handler den om anvendelsen af hellige skriifter til at udvikle samfundsmodeller, som kan både inkludere og ekskludere forskellige religiøse og etniske grupper i et samfund., The chapter analyses the connection between Biblical interpretation and the making of political communities in northern Nigeria in the 20th century. Generally, it studies the use of religious scriptures in developing models of society which can both include and exclude particular religious and ethnic groups from society.

Published
2010

48. Introduction

Author

Salih, M.A. Mohammed, El-Tom, Abdullahi, Salih, M.A. Mohammed, and El-Tom, Abdullahi

Abstract

Parties are indispensable political organizations through which people channel commonly shared values, beliefs, and ideas of governing and ordering priorities. Once political parties gain power; preferably, in free and fair elections, they can control the state and the resources and personnel of the government individually or in coalition with other political parties. As instruments of collective action, argues Weiner, political parties are the creation of the political elite in a bid to control the resources and personnel of government to implement an ideology or a political program.1 From this perspective, Islamic political parties that entered competitive politics are no different from other political parties in that all parties struggle to gain power and to control the government and its resources. Moreover, much like other political parties, they have various types of organizational structures, ability to mobilize financial resources, provide support and goodwill, recruit cadres, select or elect officers, and, in some cases, develop procedures for internal control and management.

Published
2009

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