Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Danielle E. Whittaker"'
Autor:
Iain C.A.F. Robinson, Roberto Oleari, Sakina Rajabali, Hywel Williams, Takahisa Furukawa, Mario J. Cachia, Kimberley L. H. Riegman, Mehul T. Dattani, Daniel Field, Alyssa Paganoni, Louise C. Gregory, M. Albert Basson, Lisa Benedetta De Martini, Anna Cariboni, Antonella Lettieri, Polona Le Quesne Stabej, John Torpiano, Taro Chaya, Nancy Formosa, Danielle E. Whittaker, Louise Ocaka
Publikováno v:
The Journal of Clinical Investigation
The positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier and transcriptional regulator functions downstream of the transcription factor PTF1A, which controls GABAergic fate in the spinal cord and neurogenesis in the hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::970d0170320a2e6e4d7c50418ff635ef
https://doi.org/10.1172/jci141587
https://doi.org/10.1172/jci141587
Autor:
Roberto Oleari, Nancy Formosa, Alyssa Paganoni, Polona Le Quesne-Stabej, GOSgene, Hywel Williams, Anna Cariboni, Iain C.A.F. Robinson, Takahisa Furukawa, Mario J. Cachia, Taro Chaya, M. Albert Basson, Louise Ocaka, Daniel Field, Danielle E. Whittaker, Louise C. Gregory, Kimberley L. H. Riegman, John Torpiano, Lisa Benedetta De Martini, Antonella Lettieri, Sakina Rajabali, Mehul T. Dattani
PRDM13 (PR Domain containing 13) is a putative chromatin modifier and transcriptional regulator that functions downstream of the transcription factor PTF1A, which in turn controls GABAergic fate in the spinal cord and neuronal development in the hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00d535062d7dfccc6fad2c0166248ce0
https://doi.org/10.1101/2021.07.28.21260126
https://doi.org/10.1101/2021.07.28.21260126
Publikováno v:
JOURNAL OF FELINE MEDICINE AND SURGERY
Objectives Cerebrovascular accidents (CVAs) are infrequently reported in cats. To date, clinical characteristics, including lesion localisation and MRI findings, have only been reported in two cats. The aim of the current study is to document MRI fin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::104468b9d19693c9facaca06cac923d8
https://doi.org/10.1177/1098612x17723775
https://doi.org/10.1177/1098612x17723775
Autor:
Roberto Oleari, Danielle E. Whittaker, Mehul T. Dattani, Louise C. Gregory, Basson Albert, Anna Cariboni
Publikováno v:
Journal of the Endocrine Society
PRDM13 (PR Domain containing 13) is a putative chromatin modifier and transcriptional regulator that functions downstream of the transcription factor PTF1A. Here, we report a novel, recessive syndrome associated with PRDM13 mutation. Patients exhibit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd8bbacbf9990e1554ed1e55adea072
http://europepmc.org/articles/PMC8090531
http://europepmc.org/articles/PMC8090531
Autor:
Danielle E, Whittaker, Sahrunizam, Kasah, Alex P A, Donovan, Jacob, Ellegood, Kimberley L H, Riegman, Holger A, Volk, Imelda, McGonnell, Jason P, Lerch, M Albert, Basson
Publikováno v:
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Mutations in the gene encoding the ATP dependent chromatin‐remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital‐urinary anomalies, and Ear defects) syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b4b8265bd3342eac144c67007fde6570
https://pubmed.ncbi.nlm.nih.gov/29168327
https://pubmed.ncbi.nlm.nih.gov/29168327
Publikováno v:
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc. 23(2)
Syringomyelia is a common clinical problem in the Cavalier King Charles Spaniel dog population. The underlying pathophysiology of the development and progression of syringes is currently unknown. The primary aim of the current study was to determine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a0f1ed0c6f92ec86549d6c014823b97
https://pubmed.ncbi.nlm.nih.gov/21398451
https://pubmed.ncbi.nlm.nih.gov/21398451