Search Results - "Ekong, Rosemary"

The African Genome Variation Project shapes medical genetics in Africa by Gurdasani, Deepti, Carstensen, Tommy, Tekola-Ayele, Fasil, Pagani, Luca, Tachmazidou, Ioanna, Hatzikotoulas, Konstantinos, Karthikeyan, Savita, Iles, Louise, Pollard, Martin O., Choudhury, Ananyo, Ritchie, Graham R. S., Xue, Yali, Asimit, Jennifer, Nsubuga, Rebecca N., Young, Elizabeth H., Pomilla, Cristina, Kivinen, Katja, Rockett, Kirk, Kamali, Anatoli, Doumatey, Ayo P., Asiki, Gershim, Seeley, Janet, Sisay-Joof, Fatoumatta, Jallow, Muminatou, Tollman, Stephen, Mekonnen, Ephrem, Ekong, Rosemary, Oljira, Tamiru, Bradman, Neil, Bojang, Kalifa, Ramsay, Michele, Adeyemo, Adebowale, Bekele, Endashaw, Motala, Ayesha, Norris, Shane A., Pirie, Fraser, Kaleebu, Pontiano, Kwiatkowski, Dominic, Tyler-Smith, Chris, Rotimi, Charles, Zeggini, Eleftheria, Sandhu, Manjinder S.

“…Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The…”
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Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians by Pagani, Luca, Schiffels, Stephan, Gurdasani, Deepti, Danecek, Petr, Scally, Aylwyn, Chen, Yuan, Xue, Yali, Haber, Marc, Ekong, Rosemary, Oljira, Tamiru, Mekonnen, Ephrem, Luiselli, Donata, Bradman, Neil, Bekele, Endashaw, Zalloua, Pierre, Durbin, Richard, Kivisild, Toomas, Tyler-Smith, Chris

“…The predominantly African origin of all modern human populations is well established, but the route taken out of Africa is still unclear. Two alternative…”
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In Memoriam: Emeritus Professor Sue (Margaret Susan) Povey [1942–2019] by Ekong, Rosemary

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Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies by Michalet, Xavier, Ekong, Rosemary, Fougerousse, Françoise, Rousseaux, Sophie, Schurra, Catherine, Hornigold, Nick, van Slegtenhorst, Marjon, Wolfe, Jonathan, Povey, Sue, Beckmann, Jacques S., Bensimon, Aaron

“…DNA in amounts representative of hundreds of eukaryotic genomes was extended on silanized surfaces by dynamic molecular combing. The precise measurement of…”
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Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project by Cotton, Richard G H, Al Aqeel, Aida I, Al-Mulla, Fahd, Carrera, Paola, Claustres, Mireille, Ekong, Rosemary, Hyland, Valentine J, Macrae, Finlay A, Marafie, Makia J, Paalman, Mark H, Patrinos, George P, Qi, Ming, Ramesar, Rajkumar S, Scott, Rodney J, Sijmons, Rolf H, Sobrido, María-Jesús, Vihinen, Mauno

“…: The collection of genetic variants that cause inherited disease (causative mutation) has occurred for decades albeit in an ad hoc way, for research and…”
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Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex by Mozaffari, Melika, Hoogeveen-Westerveld, Marianne, Kwiatkowski, David, Sampson, Julian, Ekong, Rosemary, Povey, Sue, den Dunnen, Johan T, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark

“…Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues. The…”
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Checklist for gene/disease‐specific variation database curators to enable ethical data management by Ekong, Rosemary, Vihinen, Mauno

“…Databases with variant and phenotype information are essential for advancing research and improving the health and welfare of individuals. These resources…”
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Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants by Farach, Laura S., Northrup, Hope, Nellist, Mark, van Unen, Leontine, Hillman, Paul, Klonowska, Katarzyna, Ekong, Rosemary, Crino, Peter B., Au, Kit Sing

“…•Caution should be used when designating novel frameshift variants as pathogenic as predictions can be inaccurate and non-canonical splice sites may be created…”
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eP120: Predicted frameshift variant in TSC2 associated with mild TSC phenotype and non-penetrance by Farach, Laura, Au, Kit-Sing, Nellist, Mark, Van Unen, Leontine, Klonowska, Katarzyna, Ekong, Rosemary, Crino, Peter, Northrup, Hope

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Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations by Huerta-Sánchez, Emilia, Degiorgio, Michael, Pagani, Luca, Tarekegn, Ayele, Ekong, Rosemary, Antao, Tiago, Cardona, Alexia, Montgomery, Hugh E, Cavalleri, Gianpiero L, Robbins, Peter A, Weale, Michael E, Bradman, Neil, Bekele, Endashaw, Kivisild, Toomas, Tyler-Smith, Chris, Nielsen, Rasmus

“…The Tibetan and Andean Plateaus and Ethiopian highlands are the largest regions to have long-term high-altitude residents. Such populations are exposed to…”
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Ethiopian Genetic Diversity Reveals Linguistic Stratification and Complex Influences on the Ethiopian Gene Pool by Pagani, Luca, Kivisild, Toomas, Tarekegn, Ayele, Ekong, Rosemary, Plaster, Chris, Gallego Romero, Irene, Ayub, Qasim, Mehdi, S. Qasim, Thomas, Mark G., Luiselli, Donata, Bekele, Endashaw, Bradman, Neil, Balding, David J., Tyler-Smith, Chris

“…Humans and their ancestors have traversed the Ethiopian landscape for millions of years, and present-day Ethiopians show great cultural, linguistic, and…”
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Eugenics history: university geneticists respond by Pomiankowski, Andrew, Thomas, Mark G., Jones, Steve, Ekong, Rosemary, van Dorp, Lucy, Maniatis, Nikolas, Lane, Nick, Rutherford, Adam, Walker, Catherine, Swallow, Dallas

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Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings by Dufner Almeida, Luiz G., Nanhoe, Santoesha, Zonta, Andrea, Hosseinzadeh, Mitra, Kom‐Gortat, Regina, Elfferich, Peter, Schaaf, Gerben, Kenter, Annegien, Kümmel, Daniel, Migone, Nicola, Povey, Sue, Ekong, Rosemary, Nellist, Mark

“…The TSC1 and TSC2 gene products interact to form the tuberous sclerosis complex (TSC), an important negative regulator of the mechanistic target of rapamycin…”
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The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria by Ojewunmi, Oyesola O, Adeyemo, Titilope A, Oyetunji, Ajoke I, Inyang, Bassey, Akinrindoye, Afolashade, Mkumbe, Baraka S, Gardner, Kate, Rooks, Helen, Brewin, John, Patel, Hamel, Lee, Sang Hyuck, Chung, Raymond, Rashkin, Sara, Kang, Guolian, Chianumba, Reuben, Sangeda, Raphael, Mwita, Liberata, Isa, Hezekiah, Agumadu, Uche-Nnebe, Ekong, Rosemary, Faruk, Jamilu A, Jamoh, Bello Y, Adebiyi, Niyi M, Umar, Ismail A, Hassan, Abdulaziz, Grace, Christopher, Goel, Anuj, Inusa, Baba P D, Falchi, Mario, Nkya, Siana, Makani, Julie, Ahmad, Hafsat R, Nnodu, Obiageli, Strouboulis, John, Menzel, Stephan

“…Abstract The clinical severity of sickle cell disease (SCD) is strongly influenced by the level of fetal haemoglobin (HbF) persistent in each patient. Three…”
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Group-based pharmacogenetic prediction: is it feasible and do current NHS England ethnic classifications provide appropriate data? by Ingram, Catherine J. E., Ekong, Rosemary, Ansari-Pour, Naser, Bradman, Neil, Swallow, Dallas M.

“…Inter-individual variation of drug metabolising enzymes (DMEs) leads to variable efficacy of many drugs and even adverse drug responses. Consequently, it would…”
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Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex by Hoogeveen-Westerveld, Marianne, Ekong, Rosemary, Povey, Sue, Mayer, Karin, Lannoy, Nathalie, Elmslie, Frances, Bebin, Martina, Dies, Kira, Thompson, Catherine, Sparagana, Steven P., Davies, Peter, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark

“…ABSTRACT Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes. The TSC1 and TSC2 gene products,…”
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Genetic Modifiers of Sickle Cell Anemia in Patients from Nigeria: A Pilot Study by Nnodu, Obiageli, Isa, Hezekiah, Tanko, Yohanna, Otu, Theresa, Ekong, Jacqueline, Elmi, Zakaria, Rooks, Helen, Menzel, Stephan, Ekong, Rosemary

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Diversity of lactase persistence in African milk drinkers by Jones, Bryony Leigh, Oljira, Tamiru, Liebert, Anke, Zmarz, Pawel, Montalva, Nicolas, Tarekeyn, Ayele, Ekong, Rosemary, Thomas, Mark G., Bekele, Endashaw, Bradman, Neil, Swallow, Dallas M.

“…The genetic trait of lactase persistence is attributable to allelic variants in an enhancer region upstream of the lactase gene, LCT . To date, five different…”
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Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis by Ekong, Rosemary, Nellist, Mark, Hoogeveen-Westerveld, Marianne, Wentink, Marjolein, Panzer, Jessica, Sparagana, Steven, Emmett, Warren, Dawson, Natalie L., Malinge, Marie Claire, Nabbout, Rima, Carbonara, Caterina, Barberis, Marco, Padovan, Sergio, Futema, Marta, Plagnol, Vincent, Humphries, Steve E., Migone, Nicola, Povey, Sue

“…ABSTRACT Inactivating mutations in TSC1 and TSC2 cause tuberous sclerosis complex (TSC). The 2012 international consensus meeting on TSC diagnosis and…”
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Contrasting exome constancy and regulatory region variation in the gene encoding CYP3A4: an examination of the extent and potential implications by Creemer, Olivia J, Ansari-Pour, Naser, Ekong, Rosemary, Tarekegn, Ayele, Plaster, Christopher, Bains, Ripudaman K, Itan, Yuval, Bekele, Endashaw, Bradman, Neil

“…CYP3A4 expression varies up to 100-fold among individuals, and, to date, genetic causes remain elusive. As a major drug-metabolizing enzyme, elucidation of…”
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