Zobrazeno 1 - 10
of 149
pro vyhledávání: '"Mustafa K Khokha"'
Publikováno v:
eLife, Vol 11 (2022)
Wnt signaling is essential for many aspects of embryonic development including the formation of the primary embryonic axis. In addition, excessive Wnt signaling drives multiple diseases including cancer, highlighting its importance for disease pathog
Externí odkaz:
https://doaj.org/article/d933d1a8959a4002b249ff633eca47b2
Autor:
Saurabh Kulkarni, Jonathan Marquez, Priya Date, Rosa Ventrella, Brian J Mitchell, Mustafa K Khokha
Publikováno v:
eLife, Vol 10 (2021)
How cells count and regulate organelle number is a fundamental question in cell biology. For example, most cells restrict centrioles to two in number and assemble one cilium; however, multiciliated cells (MCCs) synthesize hundreds of centrioles to as
Externí odkaz:
https://doaj.org/article/d69fc25fa3c6443c9d206f9e9191361b
Autor:
Victor N Rivas, K Gary Magdesian, Sophia Fagan, Nathan M Slovis, Daniela Luethy, Laura H Javsicas, Brian G Caserto, Andrew D Miller, Anna R Dahlgren, Janel Peterson, Erin N Hales, Sichong Peng, Katherine D Watson, Mustafa K Khokha, Carrie J Finno
Publikováno v:
PLoS Genetics, Vol 16, Iss 9, p e1009028 (2020)
Idiopathic hypocalcemia in Thoroughbred (TB) foals causes tetany and seizures and is invariably fatal. Based upon the similarity of this disease with human familial hypoparathyroidism and occurrence only in the TB breed, we conducted a genetic invest
Externí odkaz:
https://doaj.org/article/2c1034f6661f44d2a4f15c4d1f2245bc
Publikováno v:
PLoS Genetics, Vol 16, Iss 8, p e1008967 (2020)
Dysregulation of ribosome production can lead to a number of developmental disorders called ribosomopathies. Despite the ubiquitous requirement for these cellular machines used in protein synthesis, ribosomopathies manifest in a tissue-specific manne
Externí odkaz:
https://doaj.org/article/d025e27d1f8b4cfbb345f6b0b7220072
Autor:
Salimata Diarra, Saikat Ghosh, Lassana Cissé, Thomas Coulibaly, Abdoulaye Yalcouyé, George Harmison, Salimata Diallo, Seybou H. Diallo, Oumar Coulibaly, Alice Schindler, Cheick A.K. Cissé, Alassane B. Maiga, Salia Bamba, Oumar Samassekou, Mustafa K. Khokha, Emily K. Mis, Saquib A. Lakhani, Frank X. Donovan, Steve Jacobson, Craig Blackstone, Cheick O. Guinto, Guida Landouré, Juan S. Bonifacino, Kenneth H. Fischbeck, Christopher Grunseich
Publikováno v:
Neurobiology of Disease, Vol 198, Iss , Pp 106537- (2024)
Hereditary spastic paraplegia (HSP) comprises a large group of neurogenetic disorders characterized by progressive lower extremity spasticity. Neurological evaluation and genetic testing were completed in a Malian family with early-onset HSP. Three c
Externí odkaz:
https://doaj.org/article/ae7527cfc144494db6ca02e0b1ec3625
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005018 (2015)
The production of ribosomes is ubiquitous and fundamental to life. As such, it is surprising that defects in ribosome biogenesis underlie a growing number of symptomatically distinct inherited disorders, collectively called ribosomopathies. We previo
Externí odkaz:
https://doaj.org/article/1bdded8821004dadb2d8248bc2e32f2f
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e76807 (2013)
Xenopus is a powerful model for studying a diverse array of biological processes. However, despite multiple methods for transgenesis, relatively few transgenic reporter lines are available and commonly used. Previous work has demonstrated that transp
Externí odkaz:
https://doaj.org/article/3774db55ef77438c915119cab6aea853
Autor:
Vaughn, Colleluori, Mustafa K, Khokha
Publikováno v:
Developmental Biology. 495:42-53
Congenital Heart Disease (CHD) is the most common birth defect and leading cause of infant mortality, yet molecular mechanisms explaining CHD remain mostly unknown. Sequencing studies are identifying CHD candidate genes at a brisk rate including MINK
Autor:
Samir Al‐Ali, Lauren Jeffries, E. Vincent S. Faustino, Weizhen Ji, Emily Mis, Monica Konstantino, Cynthia Zerillo, Yong‐hui Jiang, Michele Spencer‐Manzon, Allen Bale, Hui Zhang, Julie McGlynn, James M. McGrath, Thierry Tremblay, Nina N. Brodsky, Carrie L. Lucas, Richard Pierce, Engin Deniz, Mustafa K. Khokha, Saquib A. Lakhani
Publikováno v:
American Journal of Medical Genetics Part A. 188:2869-2878
The Pediatric Genomics Discovery Program (PGDP) at Yale uses next-generation sequencing (NGS) and translational research to evaluate complex patients with a wide range of phenotypes suspected to have rare genetic diseases. We conducted a retrospectiv
Autor:
Alexander C. Bertalovitz, Weizhen Ji, Thomas V. McDonald, Jorge McCormack, Emily Sempou, Lauren Jeffries, Maliheh Najari Beidokhti, Mustafa K. Khokha, Saquib A. Lakhani
Publikováno v:
Molecular Genetics and Genomics. 296:823-836
Next-generation sequencing platforms are being increasingly applied in clinical genetic settings for evaluation of families with suspected heritable disease. These platforms potentially improve the diagnostic yield beyond that of disease-specific tar