Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Andrew K Ressler"'
Autor:
Sarah A Dugger, Ryan S Dhindsa, Gabriela De Almeida Sampaio, Andrew K Ressler, Elizabeth E Rafikian, Sabrina Petri, Verity A Letts, JiaJie Teoh, Junqiang Ye, Sophie Colombo, Yueqing Peng, Mu Yang, Michael J Boland, Wayne N Frankel, David B Goldstein
Publikováno v:
PLoS Genetics, Vol 19, Iss 10, p e1010952 (2023)
Heterozygous de novo loss-of-function mutations in the gene expression regulator HNRNPU cause an early-onset developmental and epileptic encephalopathy. To gain insight into pathological mechanisms and lay the potential groundwork for developing targ
Externí odkaz:
https://doaj.org/article/93dac0bdf894409681fb60b44fc34f59
Autor:
Andrew K. Ressler, Gabriela L.A. Sampaio, Sarah A. Dugger, Tamar Sapir, Daniel Krizay, Michael J. Boland, Orly Reiner, David B. Goldstein
Publikováno v:
iScience, Vol 26, Iss 1, Pp 105797- (2023)
Summary: Generating effective therapies for neurodevelopmental disorders has remained elusive. An emerging drug discovery approach for neurodevelopmental disorders is to characterize transcriptome-wide dysregulation in an appropriate model system and
Externí odkaz:
https://doaj.org/article/17f56316ef2941a387579a5f6eaab3e1
Autor:
Andrew K. Ressler, David B. Goldstein
Publikováno v:
Molecular Genetics & Genomic Medicine. 11
Drug development strategies for genetic diseases depend critically on accurate knowledge of how pathogenic variants cause disease. For some well-studied genes, the direct effects of pathogenic variants are well documented as loss-of-function, gain-of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb380a0f146e464213844331bf76ae46
https://doi.org/10.1002/mgg3.2097
https://doi.org/10.1002/mgg3.2097
Autor:
Andrew K. Ressler, Gabriela L.A. Sampaio, Sarah A. Dugger, Tamar Sapir, Daniel Krizay, Michael J. Boland, Orly Reiner, David B. Goldstein
Publikováno v:
iScience. 26(1)
Generating effective therapies for neurodevelopmental disorders has remained elusive. An emerging drug discovery approach for neurodevelopmental disorders is to characterize transcriptome-wide dysregulation in an appropriate model system and screen t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cff50309ac1c022a1633a5e21b64ef5
https://pubmed.ncbi.nlm.nih.gov/36594023
https://pubmed.ncbi.nlm.nih.gov/36594023
Autor:
Andrew K. Ressler, Gabriela L.A. Sampaio, Sarah A. Dugger, Tamar Sapir, Daniel Krizay, Orly Reiner, David B. Goldstein
Publikováno v:
SSRN Electronic Journal.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2ace017a532474787580064c57327c5
https://doi.org/10.2139/ssrn.4071021
https://doi.org/10.2139/ssrn.4071021
Autor:
Sarah A. Dugger, Ryan S. Dhindsa, Gabriela De Almeida Sampaio, Andrew K. Ressler, Elizabeth E. Rafikian, Sabrina Petri, Verity A. Letts, JiaJie Teoh, Junqiang Ye, Sophie Colombo, Mu Yang, Michael J. Boland, Wayne N. Frankel, David B. Goldstein
Heterozygous de novo loss-of-function mutations in the gene expression regulator HNRNPU cause an early-onset developmental and epileptic encephalopathy. To gain insight into pathological mechanisms and lay the potential groundwork for developing targ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f5c596297034892f61fd360d4f8b81a
Autor:
Andrew K. Ressler, Daniel A. Snellings, Romuald Girard, Carol J. Gallione, Rhonda Lightle, Andrew S. Allen, Issam A. Awad, Douglas A. Marchuk
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-9 (2023)
Abstract Cerebral Cavernous Malformations (CCMs) are vascular malformations of the central nervous system which can lead to moderate to severe neurological phenotypes in patients. A majority of CCM lesions are driven by a cancer-like three-hit mutati
Externí odkaz:
https://doaj.org/article/d3cb3d6a58c14cbebc6c4be7b3bcc911
Autor:
Andrew K. Ressler, David B. Goldstein
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Purpose Drug development strategies for genetic diseases depend critically on accurate knowledge of how pathogenic variants cause disease. For some well‐studied genes, the direct effects of pathogenic variants are well documented as loss
Externí odkaz:
https://doaj.org/article/6d00db0a363243849ad6f42d6282496b