Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Christine M, Clarke"'
Autor:
Joshua D. Smith, Chris D. Frazar, Christine M. Clarke, Craig B. Birgfeld, Matthew D. Smyth, Andrew E. Timms, Jennifer A. Gustafson, Vincent T. Fok, Richard A. Hopper, Amy Lee, Richard G. Ellenbogen, Joseph S. Gruss, Michael L. Cunningham
Publikováno v:
American Journal of Medical Genetics Part A. 176:290-300
We report RNA-Sequencing results on a cohort of patients with single suture craniosynostosis and demonstrate significant enrichment of heterozygous, rare, and damaging variants among key craniosynostosis-related genes. Genetic burden analysis identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a43938a0bcbed4380da5ca2216c471b
https://doi.org/10.1002/ajmg.a.38540
https://doi.org/10.1002/ajmg.a.38540
Autor:
Jonas A Gustafson, Richard G. Ellenbogen, Michael L. Cunningham, Richard A. Hopper, Joseph S. Gruss, VT Fok, Craig B. Birgfeld, Smyth, Andrew E. Timms, Christine M. Clarke, Amy S. Lee, CD Frazar, Joshua D. Smith
Publikováno v:
American journal of medical genetics. Part A. 176(11)
We report RNA-Sequencing results on a cohort of patients with single suture craniosynostosis and demonstrate significant enrichment of heterozygous, rare, and damaging variants among key craniosynostosis-related genes. Genetic burden analysis identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c814d26f3f9f9bbadb5b94c8834570
https://pubmed.ncbi.nlm.nih.gov/29168297
https://pubmed.ncbi.nlm.nih.gov/29168297
Publikováno v:
Current Epidemiology Reports. 2:1-7
Craniosynostosis, the premature fusion of one or more cranial sutures, leads to abnormal craniofacial form and function. Its causes remain largely unknown. One of the strongest clues regarding non-syndromic craniosynostosis etiology is its associatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c182bed2fa7fe0322b02b6b45d61a72
https://doi.org/10.1007/s40471-015-0036-6
https://doi.org/10.1007/s40471-015-0036-6
Autor:
Cara Plata, Christine M. Clarke, Bonnie L. Cole, Albert R. La Spada, Karen D. Tsuchiya, Raj P. Kapur
Publikováno v:
Gastroenterology. 133:1971-1978
Background & Aims: Intestinal dysmotility is a component of many neurodegenerative disorders, including some characterized by neuronal intranuclear inclusions. PrP-SCA7-92Q transgenic mice phenocopy many aspects of the human polyglutamine neurodegene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9be83e6125a957b1efefeb247269573
https://doi.org/10.1053/j.gastro.2007.08.043
https://doi.org/10.1053/j.gastro.2007.08.043
Publikováno v:
The American Midland Naturalist. 151:42-49
We examined collection of scats (feces) as a survey method for indexing statewide populations of swift foxes (Vulpes velox). We searched for scats on 99 transects throughout the range of swift foxes in New Mexico. Swift fox scats were found on 79.8%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::794d8c028e5c0eb9a02007b8db2258aa
https://doi.org/10.1674/0003-0031(2004)151[0042:isfpin]2.0.co
https://doi.org/10.1674/0003-0031(2004)151[0042:isfpin]2.0.co
Autor:
Melissa A. Parisi, Audrey Baldessari, Malissa H K Iida, Barbara Doggett, Raj P. Kapur, Christine M Clarke, Senji Shirasawa
Publikováno v:
Gastroenterology. 125:1428-1440
Background & Aims: The transcription factor Hox11L1 is expressed by enteric neurons. Two groups mutated murine Hox11L1 , and reported lethal intestinal pseudo-obstruction and colonic hyperganglionosis in many, but not all, homozygous null mutants. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5171b4a936ed408e8c8c6ddd3425ace4
https://doi.org/10.1016/j.gastro.2003.08.021
https://doi.org/10.1016/j.gastro.2003.08.021
Autor:
Christine M. Clarke, Cara Plata, Bonnie Cole, Karen Tsuchiya, Albert R. La Spada, Raj P. Kapur
Publikováno v:
Gastroenterology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d7a5c32577374b837cd185b9b2828d7
https://doi.org/10.1053/j.gastro.2007.09.032
https://doi.org/10.1053/j.gastro.2007.09.032
Inhibition of protein kinase A in murine enteric neurons causes lethal intestinal pseudo-obstruction
Autor:
Christine M. Clarke, Raj P. Kapur, Brandon S. Willis, G. Stanley McKnight, Douglas G. Howe, Huijun Yan, David A. Schneider
Publikováno v:
Journal of neurobiology. 66(3)
A number of in vitro studies suggest that many important developmental and functional events in the enteric nervous system are regulated by the intracellular signaling enzyme cAMP protein kinase A (PKA). To evaluate the in vivo significance of these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e973220de019b05bb1fa6a56a589c6e4
https://pubmed.ncbi.nlm.nih.gov/16329126
https://pubmed.ncbi.nlm.nih.gov/16329126
Publikováno v:
Journal of pediatric surgery. 40(11)
Background/Purpose The spontaneous rat mutation, familial megacecum and colon ( fmc ), is responsible for an autosomal recessive phenotype similar to intestinal pseudo-obstruction observed in Hox11L1 −/− mice. We hypothesized that fmc is a mutant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bb52f9813c5b008877fee6807555e1f
https://pubmed.ncbi.nlm.nih.gov/16291166
https://pubmed.ncbi.nlm.nih.gov/16291166
Autor:
Zhenqiang Yao, Barbara Doggett, Raj P. Kapur, Malissa H K Iida, Lianping Xing, Christine M Clarke, Brendan F. Boyce
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 19(10)
We report the first case of lethal autosomal recessive osteopetrosis in mice caused by a spontaneous 8-bp deletion in exon 2 of the Rank gene. The phenotype, including a block in RANKL-dependent osteoclast differentiation and lymph node agenesis, cop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89b6863eedb98b79fe82891131a54cd0
https://pubmed.ncbi.nlm.nih.gov/15355564
https://pubmed.ncbi.nlm.nih.gov/15355564