Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Amber Hogart"'
Publikováno v:
Neurobiology of Disease, Vol 38, Iss 2, Pp 181-191 (2010)
A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disor
Externí odkaz:
https://doaj.org/article/23a8af8d1c8e405d8b3454025caf54f4
Autor:
N. J. Wang, David J Wu, N. C. Schanen, Jennette Driscoll, Amber Hogart, Janine M. LaSalle, Karen N. Leung, Roxanne O. Vallero
Publikováno v:
Journal of Medical Genetics. 46:86-93
Chromosome 15q11-13 contains a cluster of imprinted genes essential for normal mammalian neurodevelopment. Deficiencies in paternal or maternal 15q11-13 alleles result in Prader-Willi or Angelman syndromes, respectively, and maternal duplications lea
Autor:
Peggy J. Farnham, Amber Hogart, Dag H. Yasui, Mark Bieda, Janine M. LaSalle, Raman P. Nagarajan, Sailaja Peddada, Roxanne O. Vallero, Karen N. Thatcher
Publikováno v:
Proceedings of the National Academy of Sciences. 104:19416-19421
Mutations in MECP2 cause the autism-spectrum disorder Rett syndrome. MeCP2 is predicted to bind to methylated promoters and silence transcription. However, the first large-scale mapping of neuronal MeCP2-binding sites on 26.3 Mb of imprinted and noni
Publikováno v:
Human Molecular Genetics. 16:691-703
Human chromosome 15q11-13 is a complex locus containing imprinted genes as well as a cluster of three GABA(A) receptor subunit (GABR) genes-GABRB3, GABRA5 and GABRG3. Deletion or duplication of 15q11-13 GABR genes occurs in multiple human neurodevelo
Publikováno v:
Human Molecular Genetics. 14:483-492
Autism is a common neurodevelopmental disorder of complex genetic etiology. Rett syndrome, an X-linked dominant disorder caused by MECP2 mutations, and Angelman syndrome, an imprinted disorder caused by maternal 15q11-q13 or UBE3A deficiency, have ph
Publikováno v:
Journal of Human Genetics. 47:103-106
The tricho-rhino-phalangeal syndromes (TRPS type I, II, and III) are autosomal dominant disorders sharing the following characteristics: slowly growing and sparse scalp hair, medially thick and laterally thin eyebrows, bulbous tip of the nose, long f
Autor:
Amber Hogart, Begtrup
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 1185
DNA methylation is a key epigenetic mark that is essential for properly functioning hematopoietic stem cells. Determining where functionally relevant DNA methylation marks exist in the genome is crucial to understanding the role that methylation play
Autor:
Amber Hogart Begtrup
Publikováno v:
Methods in Molecular Biology ISBN: 9781493911325
DNA methylation is a key epigenetic mark that is essential for properly functioning hematopoietic stem cells. Determining where functionally relevant DNA methylation marks exist in the genome is crucial to understanding the role that methylation play
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::322c16a0b39dd7048ab64c4bc679003c
https://doi.org/10.1007/978-1-4939-1133-2_9
https://doi.org/10.1007/978-1-4939-1133-2_9
Autor:
Amber Hogart, Stacie M. Anderson, Jens Lichtenberg, Subramanian S. Ajay, Elliott H. Margulies, David M. Bodine
Publikováno v:
Genome research. 22(8)
DNA methylation is an essential epigenetic mark that is required for normal development. Knockout of the DNA methyltransferase enzymes in the mouse hematopoietic compartment reveals that methylation is critical for hematopoietic differentiation. To b
Autor:
Janine M. LaSalle, Amber Hogart
Publikováno v:
The Neurochemical Basis of Autism ISBN: 9781441912718
GABA is the major inhibitory neurotransmitter in the mammalian brain and defects in inhibition have been implicated in autism spectrum disorders. GABA inhibition is mediated through a variety of receptor subunit genes. Three GABAA receptor subunit ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e788f60fd9cfc087eecda04ff00f87ef
https://doi.org/10.1007/978-1-4419-1272-5_8
https://doi.org/10.1007/978-1-4419-1272-5_8