Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome

Autor: Monica Penon‐Portmann, Sarah K. Westbury, Ling Li, Fred G. Pluthero, Richard J.Y. Liu, Helen H.Y. Yao, Ryan S.Q. Geng, Neil Warner, Aleixo M. Muise, Stephanie Lotz‐Esquivel, Marianela Howell‐Ramirez, Pablo Saborío‐Chacon, Sara Fernández‐Rojas, Manuel Saborio‐Rocafort, Mildred Jiménez‐Hernández, Carolina Wang‐Zuniga, Walter Cartín‐Sánchez, Joseph T. Shieh, Ramses Badilla‐Porras, Walter H.A. Kahr

Publikováno v: Penon-Portmann, M, Westbury, S K, Li, L, Pluthero, F G, Liu, R J Y L, Yao, H H Y, Kahr, W H A & et, A 2022, ' Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome ', Journal of Thrombosis and Haemostasis, vol. 20, no. 7, pp. 1712-1719 . https://doi.org/10.1111/jth.15711

BackgroundPlatelet α-granule biogenesis in precursor megakaryocytes is critically dependent on VPS33B and VPS16B, as demonstrated by the platelet α-granule deficiency seen in the rare multisystem disorder arthrogryposis, renal dysfunction and chole

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9ea64a7fd3fa8f5555bebe04a577083
https://pubmed.ncbi.nlm.nih.gov/35325493

Rubinstein-Taybi syndrome in diverse populations

Autor: Leah Dowsett, Omar A. Abdul-Rahman, Kelly L. Jones, Nicole Fleischer, Leon Mutesa, Babajide Owosela, María Gabriela Obregon, Victoria Huckstadt, Ebenezer Badoe, Bryan Malonga, Ekanem N. Ekure, Neerja Gupta, Ho Ming Luk, Gerarda Cappuccio, Engy A. Ashaat, Alicia Diaz-Kuan, Mona O. El Ruby, Jasmine L.F. Fung, Paul Kruszka, Stephanie Lotz-Esquivel, Nirmala D. Sirisena, Monica Penon Portmann, Carolyn Sian Kitchin, Cedrik Tekendo-Ngongang, Ifeanyi Kanayo Ifeorah, Meow-Keong Thong, Annette Uwineza, Sansan Lee, Yonit A. Addissie, Brian H.Y. Chung, Ivan F M Lo, Dalia Farouk Hussen, Angélica Moresco, Vajira H. W. Dissanayake, Maximilian Muenke, Nicola Brunetti-Pierri, Eloise J. Prijoles, Ramses Badilla-Porras, Roger E. Stevenson, Leticia Cassimiro Batista, Manuel Saborio-Rocafort, Danilo Moretti-Ferreira, Arianne Llamos Paneque

Publikováno v: Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP

Made available in DSpace on 2021-06-25T10:11:48Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-12-01 National Human Genome Research Institute Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function var

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca82666415ba7ee9475ce70da2da1f9f
https://pubmed.ncbi.nlm.nih.gov/32985117

Williams–Beuren syndrome in diverse populations

Autor: Antonio R. Porras, Meow-Keong Thong, Katta M. Girisha, Miguel Chávez Pastor, Angélica Moresco, Premala Muthukumarasamy, María Gabriela Obregon, Ee Shien Tan, Gary T. K. Mok, Maximilian Muenke, Engela Honey, Cedrik Tekendo-Ngongang, Alec P. Boyle, E.V. Badoe, Laila Bouguenouch, Colleen A. Morris, Rupesh Mishra, Angeline Lai, Bertha Elena Gallardo Jugo, Adebowale Adeyemo, Deise Helena de Souza, Saumya Shekhar Jamuar, María Beatriz de Herreros, Karim Ouldim, Beth A. Kozel, Ashleigh D. Gill, Danilo Moretti-Ferreira, Mieke M. van Haelst, Ivan F M Lo, Vajira H. W. Dissanayake, Pranoot Tanpaiboon, Carlos Ferreira, Nirmala D. Sirisena, Leah Dowsett, Marshall L. Summar, Tommy Hu, Hugo Hernán Abarca Barriga, Dalia Farouk Hussen, Monisha S. Kisling, Milana Trubnykova, Ni-Chung Lee, Victoria Huckstadt, Marius George Linguraru, A. Micheil Innes, Eloise J. Prijoles, Vorasuk Shotelersuk, Khadija Belhassan, Brian H.Y. Chung, Jiin Ying Lim, Paul Kruszka, Anju Shukla, Ramses Badilla-Porras, Roger E. Stevenson, Siddaramappa J. Patil, Yonit A. Addissie, C. Sampath Paththinige, Ambroise Wonkam, Ihssane El Bouchikhi, Engy A. Ashaat, Mona O. El Ruby, Stephanie Lotz-Esquivel, André Mégarbané, Jorge La Serna, Cham Breana Wen-Min, HM Luk, Karen Fieggen, Alison Eaton, Neerja Gupta, Kelly L. Jones

Publikováno v: American Journal of Medical Genetics Part A, 176(5), 1128-1136. Wiley-Liss Inc.
Kruszka, P, Porras, A R, de Souza, D H, Moresco, A, Huckstadt, V, Gill, A D, Boyle, A P, Hu, T, Addissie, Y A, Mok, G T K, Tekendo-Ngongang, C, Fieggen, K, Prijoles, E J, Tanpaiboon, P, Honey, E, Luk, H-M, Lo, I F M, Thong, M-K, Muthukumarasamy, P, Jones, K L, Belhassan, K, Ouldim, K, El Bouchikhi, I, Bouguenouch, L, Shukla, A, Girisha, K M, Sirisena, N D, Dissanayake, V H W, Paththinige, C S, Mishra, R, Kisling, M S, Ferreira, C R, de Herreros, M B, Lee, N-C, Jamuar, S S, Lai, A, Tan, E S, Ying Lim, J, Wen-Min, C B, Gupta, N, Lotz-Esquivel, S, Badilla-Porras, R, Hussen, D F, El Ruby, M O, Ashaat, E A, Patil, S J, Dowsett, L, Eaton, A, Innes, A M, Shotelersuk, V, Badoe, Ë, Wonkam, A, Obregon, M G, Chung, B H Y, Trubnykova, M, La Serna, J, Gallardo Jugo, B E, Chávez Pastor, M, Abarca Barriga, H H, Megarbane, A, Kozel, B A, van Haelst, M M, Stevenson, R E, Summar, M, Adeyemo, A A, Morris, C A, Moretti-Ferreira, D, Linguraru, M G & Muenke, M 2018, ' Williams-Beuren syndrome in diverse populations ', American Journal of Medical Genetics Part A, vol. 176, no. 5, pp. 1128-1136 . https://doi.org/10.1002/ajmg.a.38672

Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e32d4933dafcf00d120fc6f768507dad
https://doi.org/10.1002/ajmg.a.38672

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in theCHST14gene

Autor: Ramses Badilla-Porras, Sheila Unger, Gen Nishimura, Luisa Bonafé, Susan Blaser, Elaine Goh, Laureane Mittaz, Roberto Mendoza-Londono, Andrew W. Howard, David Chitayat, Andrea Superti-Furga, Walter H. A. Kahr, Lucie Dupuis, Aleksander Hinek

Publikováno v: American journal of medical genetics. Part A

We report on a consanguineous, Afghani family with two sisters affected with characteristic facial features, multiple contractures, progressive joint and skin laxity, hemorrhagic diathesis following minor trauma and multisystem fragility-related mani

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eda3bbd50d179a58db58305e090dfcb4
https://doi.org/10.1002/ajmg.a.35339

Multiple endocrine neoplasia type 1 familial case in a patient with insulinoma and primary hyperparathyroidism: First report in literature and in the Costa Rican population of the c.1224_1225insGTCC pathogenic variant

Autor: Paula Molina‐Céspedes, Ernesto José Ruiz‐Golcher, Oscar Badilla‐Barboza, Giovanni Sedó‐Mejía, Laura Barboza‐Rodríguez, Ramsés Badilla‐Porras

Publikováno v: Clinical Case Reports, Vol 11, Iss 3, Pp n/a-n/a (2023)

Abstract Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder without a good genotype–phenotype correlation, characterized by tumor predisposition in the parathyroid gland, anterior pituitary, and pancreatic islet cells.

Externí odkaz: https://doaj.org/article/8ea4475df25b4e18822c28af1cefcb02