INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Autor: Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie Escande-Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)

The integrator complex is required for the synthesis of protein coding and non-coding RNA and contains the protein INTS13. Here, the authors find germline mutations in INTS13 in two families with oral facial digital syndrome and show that the mutatio

Externí odkaz: https://doaj.org/article/35883c108c1d4e72ba468a3fd1444767

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization

Autor: Corey J. Cain, Nathalie Gaborit, Wint Lwin, Emilie Barruet, Samantha Ho, Carine Bonnard, Hanan Hamamy, Mohammad Shboul, Bruno Reversade, Hülya Kayserili, Benoit G. Bruneau, Edward C. Hsiao

Publikováno v: Bone Reports, Vol 5, Iss , Pp 86-95 (2016)

Cranial malformations are a significant cause of perinatal morbidity and mortality. Iroquois homeobox transcription factors (IRX) are expressed early in bone tissue formation and facilitate patterning and mineralization of the skeleton. Mice lacking

Externí odkaz: https://doaj.org/article/f701f83d752c4042a4cdc649ca5146b4

Communities and community genetics in Ethiopia

Autor: Luche Tadesse, Fikru Tafesse, Hanan Hamamy

Publikováno v: The Pan African Medical Journal, Vol 18, Iss 115 (2014)

The rates of congenital and genetic disorders in low and middle income countries are similar or might be higher than in high income countries due to a multitude of risk factors and the dearth of community genetic services. To direct effective prevent

Externí odkaz: https://doaj.org/article/c45b49d80d3d487389282961b4f4caa7

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

Autor: Daniel L. Polla, Sirous Zeinali, Nina A. Demina, Majid Yavarian, Stylianos E. Antonarakis, Sandra von Hardenberg, Saima Riazuddin, Filomena Pirozzi, Sven Hethey, Zubair M. Ahmed, Leah Fleming, Jacek Pilch, John Condie, Vasilina S. Sergeeva, Mohammad Ali Faghihi, Nael Nadif Kasri, Shima Bahramjahan, Neelam Fatima, Periklis Makrythanasis, Muhammad Ansar, Alena L. Chukhrova, Anke K. Bergmann, Hanka Venselaar, Mohsin Shahzad, Arjan P.M. de Brouwer, Mohammad Ali Farazi Fard, Hans van Bokhoven, Ghayda M. Mirzaa, Mohammad-Sadegh Fallah, Hennie T. Brüggenwirth, Olga Levchenko, Laura Donker Kaat, Afsaneh Taghipour Sheshdeh, Pooneh Nikuei, Amira Masri, Mureed Hussain, Agnieszka Pollak, Federico Santoni, Katrin Linda, Alexander Lavrov, Fareeha Fatima, Ebrahim Eftekhar, Hanan Hamamy, Gaia Ruggeri, Sheikh Riazuddin, Zahra Tabatabaei, Janneke H M Schuurs-Hoeijmakers, Rafał Płoski, Parham Habibzadeh, Mohammad Silawi

Publikováno v: Genetics in Medicine, 23(7), 1246-1254. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 1246-1254
Genetics in Medicine, 23, 7, pp. 1246-1254
Genet Med

Purpose: To elucidate the novel molecular cause in families with a new autosomal recessive neurodevelopmental disorder. Methods: A combination of exome sequencing and gene matching tools was used to identify pathogenic variants in 17 individuals. Qua

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3f5a9e869e71a7190c0baaa8bc7696
https://pure.eur.nl/en/publications/01ef9fa8-3fe3-46f4-892f-0fdf1d5a6b76

Rare single gene disorders: estimating baseline prevalence and outcomes worldwide

Autor: Hannah, Blencowe, Sowmiya, Moorthie, Mary, Petrou, Hanan, Hamamy, Sue, Povey, Alan, Bittles, Stephen, Gibbons, Matthew, Darlison, Bernadette, Modell, K A, Yunis

Publikováno v: Journal of Community Genetics

As child mortality rates overall are decreasing, non-communicable conditions, such as genetic disorders, constitute an increasing proportion of child mortality, morbidity and disability. To date, policy and public health programmes have focused on co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e4ba0c459b98b83701b2a2824223b3
https://doi.org/10.1007/s12687-018-0376-2