Important ideas to build upon
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Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura.
Tischfield MA, Robson CD, Gilette NM, Chim SM, Sofela FA, DeLisle MM, Gelber A, Barry BJ, MacKinnon S, Dagi LR, Nathans J, Engle EC.
Dev Cell. 2017 Sep 11;42(5):445-461
*Featured Article
See accompanying preview:
A BMPy Road for Venous Development.
Goddard LM, Kahn ML.
Dev Cell. 2017 Sep 11;42(5):435-436
Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura.
Tischfield MA, Robson CD, Gilette NM, Chim SM, Sofela FA, DeLisle MM, Gelber A, Barry BJ, MacKinnon S, Dagi LR, Nathans J, Engle EC.
Dev Cell. 2017 Sep 11;42(5):445-461
*Featured Article
See accompanying preview:
A BMPy Road for Venous Development.
Goddard LM, Kahn ML.
Dev Cell. 2017 Sep 11;42(5):435-436
Selected Publications
Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle
Michalak SM, Whitman MC, Park JG, Tischfield MA, Nguyen EH, Engle EC.
Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2388-2396 PUBMED
Transient Opening of the Mitochondrial Permeability Transition Pore Induces Microdomain Calcium Transients in Astrocyte Processes
Agarwal A, Wu PH, Hughes EG, Fukaya M, Tischfield MA, Langseth AJ, Wirtz D, Bergles DE.
Neuron. 2017 Feb 8;93(3):587-605 PUBMED
**Cover story and featured article
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC.
Am J Hum Genet. 2016 Jun 2;98(6):1220-1227 PUBMED
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development
Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC.
Am J Med Genet A. 2016 Feb;170A(2):297-305 PUBMED
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC.
Hum Mol Genet. 2012 Dec 15;21(26):5484-99 PUBMED
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations
Tischfield MA, Cederquist GY, Gupta ML Jr, Engle EC.
Curr Opin Genet Dev. 2011 Jun;21(3):286-94 PUBMED
Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis
Tischfield MA, Engle EC.
Biosci Rep. 2010 Apr 15;30(5):319-30 PUBMED
Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations
Demer JL, Clark RA, Tischfield MA, Engle EC.
Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4600-11 PUBMED
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC.
Cell. 2010 Jan 8;140(1):74-87 PUBMED
The clinical spectrum of homozygous HOXA1 mutations
Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP.
Am J Med Genet A. 2008 May 15;146A(10):1235-40 PUBMED
Clinical characterization of the HOXA1 syndrome BSAS variant
Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC.
Neurology. 2007 Sep 18;69(12):1245-53 PUBMED
HOXA1 mutations are not a common cause of Duane anomaly
Tischfield MA, Chan WM, Grunert JF, Andrews C, Engle EC.
Am J Med Genet A. 2006 Apr 15;140(8):900-2 PUBMED
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC.
Nat Genet. 2005 Oct;37(10):1035-7 PUBMED
Michalak SM, Whitman MC, Park JG, Tischfield MA, Nguyen EH, Engle EC.
Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2388-2396 PUBMED
Transient Opening of the Mitochondrial Permeability Transition Pore Induces Microdomain Calcium Transients in Astrocyte Processes
Agarwal A, Wu PH, Hughes EG, Fukaya M, Tischfield MA, Langseth AJ, Wirtz D, Bergles DE.
Neuron. 2017 Feb 8;93(3):587-605 PUBMED
**Cover story and featured article
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC.
Am J Hum Genet. 2016 Jun 2;98(6):1220-1227 PUBMED
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development
Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC.
Am J Med Genet A. 2016 Feb;170A(2):297-305 PUBMED
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC.
Hum Mol Genet. 2012 Dec 15;21(26):5484-99 PUBMED
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations
Tischfield MA, Cederquist GY, Gupta ML Jr, Engle EC.
Curr Opin Genet Dev. 2011 Jun;21(3):286-94 PUBMED
Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis
Tischfield MA, Engle EC.
Biosci Rep. 2010 Apr 15;30(5):319-30 PUBMED
Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations
Demer JL, Clark RA, Tischfield MA, Engle EC.
Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4600-11 PUBMED
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC.
Cell. 2010 Jan 8;140(1):74-87 PUBMED
The clinical spectrum of homozygous HOXA1 mutations
Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP.
Am J Med Genet A. 2008 May 15;146A(10):1235-40 PUBMED
Clinical characterization of the HOXA1 syndrome BSAS variant
Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC.
Neurology. 2007 Sep 18;69(12):1245-53 PUBMED
HOXA1 mutations are not a common cause of Duane anomaly
Tischfield MA, Chan WM, Grunert JF, Andrews C, Engle EC.
Am J Med Genet A. 2006 Apr 15;140(8):900-2 PUBMED
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC.
Nat Genet. 2005 Oct;37(10):1035-7 PUBMED