Zobrazeno 1 - 10
of 48
pro vyhledávání: '"AMAN, GEORGE"'
Autor:
Kiyoharu J. Miyagishima, Ruchi Sharma, Malika Nimmagadda, Katharina Clore-Gronenborn, Zoya Qureshy, Davide Ortolan, Devika Bose, Mitra Farnoodian, Congxiao Zhang, Andrew Fausey, Yuri V. Sergeev, Mones Abu-Asab, Bokkyoo Jun, Khanh V. Do, Marie-Audrey Kautzman Guerin, Jorgelina Calandria, Aman George, Bin Guan, Qin Wan, Rachel C. Sharp, Catherine Cukras, Paul A. Sieving, Robert B. Hufnagel, Nicolas G. Bazan, Kathleen Boesze-Battaglia, Sheldon Miller, Kapil Bharti
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-16 (2021)
Miyagishima et al. investigate the pathological mechanisms underlying mutant CTRP5 function in late-onset retinal degeneration (L-ORD). With human iPSC-derived RPE cells, they demonstrate that in L-ORD iRPE, constitutive activation of AMPK disrupts c
Externí odkaz:
https://doaj.org/article/24727da70edd48558b39804aab74c898
Autor:
Ruchi Sharma, Aman George, Malika Nimmagadda, Davide Ortolan, Barbosa-Sabanero Karla, Zoya Qureshy, Devika Bose, Roba Dejene, Genqing Liang, Qin Wan, Justin Chang, Balendu Shekhar Jha, Omar Memon, Kiyoharu Joshua Miyagishima, Aaron Rising, Madhu Lal, Eric Hanson, Rebecca King, Mercedes Maria Campos, Marc Ferrer, Juan Amaral, David McGaughey, Kapil Bharti
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Age-related macular degeneration is characterized by lipid-rich drusen deposits underneath the retinal pigment epithelium (RPE). Here the authors report an in vitro iPSC-RPE model for AMD that recapitulates drusen and RPE atrophy, and identify two dr
Externí odkaz:
https://doaj.org/article/988dc6dedea34110a9215b08c61d924e
Autor:
Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Loss of the cadherin FAT1 has been associated with nephropathy and epithelial cell adhesion defects. Here, the authors report five families with a syndromic form of coloboma associated with homozygous frameshift variants in FAT1 and recapitulate the
Externí odkaz:
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3
Autor:
Emile R. Vieta-Ferrer, Ehsan Ullah, Delphine Blain, Julie A. Christensen, Carmen C. Brewer, James E. Balow, Aman George, Robert B. Hufnagel, Tiziana Cogliati, Brian P. Brooks
Publikováno v:
Ophthalmic Genetics. 44:182-185
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b49f2cb6e24dd2e7b8c9bea116397782
https://doi.org/10.1080/13816810.2022.2089360
https://doi.org/10.1080/13816810.2022.2089360
Autor:
Aman George, Ruchi Sharma, Tyler Pfister, Mones Abu-Asab, Nathan Hotaling, Devika Bose, Charles DeYoung, Justin Chang, David R. Adams, Tiziana Cogliati, Kapil Bharti, Brian P. Brooks
Publikováno v:
Stem Cell Reports
Summary Oculocutaneous albinism (OCA) encompasses a set of autosomal recessive genetic conditions that affect pigmentation in the eye, skin, and hair. OCA patients display reduced best-corrected visual acuity, reduced to absent ocular pigmentation, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cb385ef6b0bf1d18fe1b2106ab39428
http://europepmc.org/articles/PMC8758966
http://europepmc.org/articles/PMC8758966
Autor:
Darien Shanske, Young Ran (Christine) Kim, Reuven S. Avi-Yonah, David Gamage, Orly Mazur, Aman George, Samara Spence
Publikováno v:
SSRN Electronic Journal.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70cdaeea463448ea6c9cdab52aaf5ce8
https://doi.org/10.2139/ssrn.4409970
https://doi.org/10.2139/ssrn.4409970
Publikováno v:
Developmental dynamics : an official publication of the American Association of Anatomists.
RERE is a highly conserved transcriptional co-regulator that is associated with a human neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH, OMIM: 616975).We show that the zebrafish rerea mutant (babyface) robust
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86e8d471c011917d49606bb1a96edcb2
https://pubmed.ncbi.nlm.nih.gov/36576487
https://pubmed.ncbi.nlm.nih.gov/36576487
Autor:
Bernd Wollnik, Siham Chafai Elalaoui, Kapil Bharti, Connie R. Bezzina, Najim Lahrouchi, Ruchi Sharma, Amina Berraho, Najlae Adadi, Abdelaziz Sefiani, Janine Altmueller, Stanislas Lyonnet, Mones Abu-Asab, Alessandro Plebani, Vardiella Meiner, Felix Onojafe, Sanita Bharti, Yassine Lamsyah, Friedhelm Hildebrandt, Helen McNeill, Ronen Schneider, Alexandra Henrion-Caude, Hamza Elorch, Fatima-Zahra Laarabi, Imane Chebbar, Ilham Ratbi, Elisabeth M. Lodder, Alex V. Postma, Brian P. Brooks, Aman George, Shahida Moosa, Henriette Kyrieleis, Vassilios Lougaris
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Nature communications, 10(1). Nature Publishing Group
Nature Communications
Nature communications, 10(1). Nature Publishing Group
Nature Communications
A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without nephropathy, associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::813282bd9ed009737dce5ec983af210b
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3
Autor:
Peter Bajcsy, Petre Manescu, Carl G. Simon, Kapil Bharti, Qin Wan, Mylene Simon, Aman George, Joe Chalfoun, Nicholas J. Schaub, Nathan Hotaling, Sarala Padi, Ruchi Sharma, Mohamed Ouladi
Publikováno v:
J Clin Invest
Increases in the number of cell therapies in the preclinical and clinical phases have prompted the need for reliable and noninvasive assays to validate transplant function in clinical biomanufacturing. We developed a robust characterization methodolo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d33b2bca1518cd629c60b2b112b44d2a
https://europepmc.org/articles/PMC6994191/
https://europepmc.org/articles/PMC6994191/
Autor:
Johnny Tam, Tao Liu, Margery G. Smelkinson, Catherine A Cukras, Laryssa A. Huryn, Brian P. Brooks, Aman George, Sarah S. Cohen, Kapil Bharti, Arvydas Maminishkis, Ruchi Sharma, Jianfei Liu, Owen Schwartz, HaeWon Jung, Robert N. Fariss
Publikováno v:
JCI Insight. 4
The heterogeneity of individual cells in a tissue has been well characterized, largely using ex vivo approaches that do not permit longitudinal assessments of the same tissue over long periods of time. We demonstrate a potentially novel application o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f280d9afe67f143a0ecc4dcdfc9462
https://doi.org/10.1172/jci.insight.124904
https://doi.org/10.1172/jci.insight.124904