Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Areesha Salman"'
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism
Autor:
Simran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Loryn Byres, Susan Lin, Joshua Dalmann, Areesha Salman, Jill Mwenifumbo, Bhavi P. Modi, Catherine M. Biggs, Cyrus Boelman, Lorne A. Clarke, Anna Lehman, Stuart E. Turvey
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100259- (2024)
Summary: Microtubule affinity-regulating kinase 4 (MARK4) is a serine/threonine kinase that plays a key role in tau phosphorylation and regulation of the mammalian target of rapamycin (mTOR) pathway. Abnormal tau phosphorylation and dysregulation of
Externí odkaz:
https://doaj.org/article/bf3e9fa10478485a97952f4e524c5f92
Autor:
Oguz K. Ozgoren, Glen Lester Sequiera, Costanza Ferrari Bardile, Sophia C. Gjervan, Areesha Salman, Anna Lehman, Stuart E. Turvey, Colin J.D. Ross, Sylvia Stockler, Mahmoud A. Pouladi
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103174- (2023)
Hypomyelinating Leukodystrophy 22 (HLD22) is caused by a stoploss mutation in CLDN11. To study the molecular mechanisms underlying HLD22, human induced pluripotent stem cells (hiPSCs) were generated from patient fibroblasts carrying the stop-loss mut
Externí odkaz:
https://doaj.org/article/da28363744664b88907f8eb810119337
Autor:
Nour Gazzaz, F. Graeme Frost, Emily Alderman, Phillip A. Richmond, Joshua Dalmann, Susan Lin, Areesha Salman, Kate L. Del Bel, Anna Lehman, Stuart E. Turvey, Cornelius F. Boerkoel, Praveen F. Cherukuri
Publikováno v:
American Journal of Medical Genetics Part A. 188:3089-3095
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00808031d1ea883adc26d531c1e32dfb
https://doi.org/10.1002/ajmg.a.62942
https://doi.org/10.1002/ajmg.a.62942
Publikováno v:
Journal of Genetic Counseling. 32:68-78
Both empirical data and genetic counselors' clinical experience suggest that patients differ in the extent to which they benefit from genetic counseling (GC). Understanding the origins of these differences could help adapt services to ensure that all
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8207174714cb301d7073d7f2c20f897b
https://doi.org/10.1002/jgc4.1623
https://doi.org/10.1002/jgc4.1623
Autor:
Adam P. Sage, Hyun Kyung Lee, Joshua Dalmann, Susan Lin, Simran Samra, Areesha Salman, Kate L. Del Bel, Wenhui Laura Li, Anna Lehman, Stuart E. Turvey, Cornelius F. Boerkoel, Phillip A. Richmond
Publikováno v:
American Journal of Medical Genetics Part A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b4d7bf727ad71c65afb95d8361967214
https://doi.org/10.1002/ajmg.a.63249
https://doi.org/10.1002/ajmg.a.63249
Autor:
Mehul Sharma, Maggie P. Fu, Henry Y. Lu, Ashish A. Sharma, Bhavi P. Modi, Christina Michalski, Susan Lin, Joshua Dalmann, Areesha Salman, Kate L. Del Bel, Meriam Waqas, Jefferson Terry, Audi Setiadi, Pascal M. Lavoie, Wyeth W. Wasserman, Jill Mwenifumbo, Michael S. Kobor, Anna F. Lee, Florian Kuchenbauer, Anna Lehman, Sylvia Cheng, Anthony Cooper, Millan S. Patel, Stuart E. Turvey
Publikováno v:
Blood. 140(17)
The discovery of humans with monogenic disorders has a rich history of generating new insights into biology. Here we report the first human identified with complete deficiency of nuclear factor of activated T cells 1 (NFAT1). NFAT1, encoded by NFATC2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c4b7b3387f662b88c2209cb3785bdf
https://pubmed.ncbi.nlm.nih.gov/35789258
https://pubmed.ncbi.nlm.nih.gov/35789258
Autor:
Mehul Sharma, Maggie P. Fu, Henry Y. Lu, Ashish A. Sharma, Bhavi P. Modi, Christina Michalski, Susan Lin, Joshua Dalmann, Areesha Salman, Kate L. Del Bel, Meriam Waqas, Jefferson Terry, Audi Setiadi, Pascal M. Lavoie, Wyeth W. Wasserman, Jill Mwenifumbo, Michael S. Kobor, Anna F. Lee, Anna Lehman, Sylvia Cheng, Anthony Cooper, Millan S. Patel, Stuart E. Turvey
Discovery of humans with monogenic disorders has a rich history of generating new insights into biology. Here we report the first human identified with complete deficiency of nuclear factor of activated T cells 1 (NFAT1). NFAT1, encoded by NFATC2, me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e85b1a0cda3ffbd42123cea08f585598
https://doi.org/10.1101/2022.01.30.22269378
https://doi.org/10.1101/2022.01.30.22269378
