Zobrazeno 1 - 9
of 9
pro vyhledávání: '"David G. Schroeder"'
Autor:
Kathryn H. Morelli, Kevin L. Seburn, David G. Schroeder, Emily L. Spaulding, Loiuse A. Dionne, Gregory A. Cox, Robert W. Burgess
Publikováno v:
Cell Reports, Vol 18, Iss 13, Pp 3178-3191 (2017)
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause forms of CMT, resulting in demyelination and axonal dysfunction. The clinical presentation, in
Externí odkaz:
https://doaj.org/article/75c1f25d43654c798eae312e468f7433
Autor:
Loiuse A. Dionne, Robert W. Burgess, Kathryn H. Morelli, David G. Schroeder, Emily Spaulding, Gregory A. Cox, Kevin L. Seburn
Publikováno v:
Cell Reports, Vol 18, Iss 13, Pp 3178-3191 (2017)
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause forms of CMT, resulting in demyelination and axonal dysfunction. The clinical presentation, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::269abc8c0f390bc6a0e50f7ace6374b8
https://doi.org/10.1016/j.celrep.2017.03.009
https://doi.org/10.1016/j.celrep.2017.03.009
Autor:
Lifeng Zhang, Bo Liang, Gregory A. Cox, Yun Li, Da-Ting Lin, Zhong-wei Zhang, Wen Zhang, David G. Schroeder
Publikováno v:
Nature neuroscience
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping neurodegenerative disorders whose pathogenesis remains largely unknown. Here using TDP-43A315T mice, an ALS and FTD model with profound cortical pathology, we demon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63883e396286fb608472b76916d981ce
https://doi.org/10.1038/nn.4257
https://doi.org/10.1038/nn.4257
Autor:
Mariàngels de Planell-Saguer, Gregory A. Cox, Zissimos Mourelatos, David G. Schroeder, María Celina Rodicio
Publikováno v:
Human Molecular Genetics. 18:2115-2126
The human motor neuron degenerative disease spinal muscular atrophy with respiratory distress type 1 (SMARD1) is caused by loss of function mutations of immunoglobulin mu-binding protein 2 (IGHMBP2), a protein of unknown function that contains DNA/RN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebf1a8f45208f5eba25837af392b3503
https://doi.org/10.1093/hmg/ddp134
https://doi.org/10.1093/hmg/ddp134
Autor:
Laura G. Reinholdt, Amira Masri, Patricia F Ward-Bailey, Abby Tadenev, Jocelyn C. Sharp, Anne Czechanski, Robert W. Burgess, Candice Byers, Anuj Srivastava, Jeffrey Milbrandt, Belinda S. Harris, Hanan Hamamy, Periklis Makrythanasis, Stylianos E. Antonarakis, Gregory A. Cox, Rangjiao Liu, Stephen A. Murray, Coleen Kane, Jay Shendure, Whitney Martin, Polyxeni Gudis, Federico Santoni, Bo Chang, Anuradha Lakshminarayana, Paul F. Cliften, Laurent P. Bogdanik, Ian Greenstein, Kristina Palmer, Louise A Dionne, Heather Fairfield, Martin Kircher, C. Herbert Pratt, Son Yong Karst, Melissa L. Berry, David E. Bergstrom, Michelle Curtain, Leah Rae Donahue, Guruprasad Ananda, David G. Schroeder
Publikováno v:
Genome Research, Vol. 25, No 7 (2015) pp. 948-957
Genome Res, vol. 25, no. 7, pp. 948-57
GENOME RESEARCH
Genome Res, vol. 25, no. 7, pp. 948-57
GENOME RESEARCH
Spontaneously arising mouse mutations have served as the foundation for understanding gene function for more than 100 years. We have used exome sequencing in an effort to identify the causative mutations for 172 distinct, spontaneously arising mouse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7d929619ef8a01cd99b8ef1fb6b5e99
https://europepmc.org/articles/PMC4484392/
https://europepmc.org/articles/PMC4484392/
Publikováno v:
Human Molecular Genetics. 13:1105-1115
Immunoglobulin mu binding protein 2 (IGHMBP2) is a DNA/RNA helicase with a putative role in transcriptional regulation and splicing. A recessive mutation of the Ighmbp2 gene in neuromuscular degeneration (nmd) mice causes progressive neurogenic atrop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b2b1f1966546bb80c2de1d8668331f8
https://doi.org/10.1093/hmg/ddh129
https://doi.org/10.1093/hmg/ddh129
Publikováno v:
Mammalian Genome. 12:95-103
The inheritance of adiposity levels has been investigated in an intercross of the obese, diabetes-prone NZO and the small, lean SM mouse strains. Adiposity index (AI) was defined as the sum of four fat pad weights divided by body weight. DNA pools fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca3cdde990b0a872e6567875b14b5cb0
https://doi.org/10.1007/s003350010254
https://doi.org/10.1007/s003350010254
Autor:
Farah A. Ibrahim, David G. Schroeder
Publikováno v:
Journal of Comparative Family Studies. 21:193-205
This article presents an intervention for couples who come from two different cultural backgrounds. The approach emphasizes that the therapist have knowledge of culture-specific strategies, general knowledge of the cultures involved (including the co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc89bdf4cd049869c0c80c25871c00e0
https://doi.org/10.3138/jcfs.21.2.193
https://doi.org/10.3138/jcfs.21.2.193
Autor:
Wiedong Zhang, Terry P. Maddatu, Sean M. Garvey, Soh-Yule Kim, David G. Schroeder, Gregory A. Cox, Crystal Davis, A Nicholson
Publikováno v:
Human molecular genetics. 14(21)
Mutations in the immunoglobulin mu binding protein-2 (Ighmbp2) gene cause motor neuron disease and dilated cardiomyopathy (DCM) in the neuromuscular degeneration (nmd) mouse and spinal muscular atrophy with respiratory distress (SMARD1) in humans. To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::448ff03de80edf461568e870a862fe19
https://pubmed.ncbi.nlm.nih.gov/16174646
https://pubmed.ncbi.nlm.nih.gov/16174646