Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
1 to 25 of 132  Show

Literature citations Results

Transcription factor Lmo4 defines the shape of functional areas in developing cortices and regulates sensorimotor control.

Huang Z., Kawase-Koga Y., Zhang S., Visvader J., Toth M., Walsh C.A., Sun T.

Dev. Biol. 327:132-142(2009) · Mapped (35)

Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.

Chen M.H., Choudhury S., Hirata M., Khalsa S., Chang B., Walsh C.A.

Am. J. Med. Genet. A 176:337-350(2018) · Mapped (12)

The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.

Kouprina N., Pavlicek A., Collins N.K., Nakano M., Noskov V.N., Ohzeki J.I., Mochida G.H., Risinger J.I., Goldsmith P., Gunsior M. et al.

Hum. Mol. Genet. 14:2155-2165(2005) · UniProtKB (4) · Mapped (3)

The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate.

Chae T.H., Kim S., Marz K.E., Hanson P.I., Walsh C.A.

Nat. Genet. 36:264-270(2004) · Mapped (83)

The exon junction complex component Magoh controls brain size by regulating neural stem cell division.

Silver D.L., Watkins-Chow D.E., Schreck K.C., Pierfelice T.J., Larson D.M., Burnetti A.J., Liaw H.J., Myung K., Walsh C.A., Gaiano N. et al.

Nat. Neurosci. 13:551-558(2010) · Mapped (93)

The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles.

Coulter M.E., Dorobantu C.M., Lodewijk G.A., Delalande F., Cianferani S., Ganesh V.S., Smith R.S., Lim E.T., Xu C.S., Pang S. et al.

Cell Rep 24:973-986.e8(2018) · Mapped (74)

The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position.

Baizabal J.M., Mistry M., Garcia M.T., Gomez N., Olukoya O., Tran D., Johnson M.B., Walsh C.A., Harwell C.C.

Neuron 98:945-962.e8(2018) · Mapped (92)

The DCX-domain tandems of doublecortin and doublecortin-like kinase.

Kim M.H., Cierpicki T., Derewenda U., Krowarsch D., Feng Y., Devedjiev Y., Dauter Z., Walsh C.A., Otlewski J., Bushweller J.H. et al.

Nat. Struct. Biol. 10:324-333(2003) · UniProtKB (1) · Mapped (5)

The cerebrospinal fluid provides a proliferative niche for neural progenitor cells.

Lehtinen M.K., Zappaterra M.W., Chen X., Yang Y.J., Hill A.D., Lun M., Maynard T., Gonzalez D., Kim S., Ye P. et al.

Neuron 69:893-905(2011) · Mapped (44)

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.

Basel-Vanagaite L., Attia R., Yahav M., Ferland R.J., Anteki L., Walsh C.A., Olender T., Straussberg R., Magal N., Taub E. et al.

J. Med. Genet. 43:203-210(2006) · UniProtKB (2) · Mapped (3)

The apical complex couples cell fate and cell survival to cerebral cortical development.

Kim S., Lehtinen M.K., Sessa A., Zappaterra M.W., Cho S.H., Gonzalez D., Boggan B., Austin C.A., Wijnholds J., Gambello M.J. et al.

Neuron 66:69-84(2010) · Mapped (135)

Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation.

Powers S.E., Taniguchi K., Yen W., Melhuish T.A., Shen J., Walsh C.A., Sutherland A.E., Wotton D.

Development 137:249-259(2010) · Mapped (53)

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

D'Gama A.M., Pochareddy S., Li M., Jamuar S.S., Reiff R.E., Lam A.T., Sestan N., Walsh C.A.

Neuron 88:910-917(2015) · UniProtKB (13) · Mapped (26)

Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice.

Shen J., Walsh C.A.

Mol. Cell. Biol. 25:3639-3647(2005) · Mapped (16)

Synaptic, transcriptional and chromatin genes disrupted in autism.

DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium
De Rubeis S., He X., Goldberg A.P., Poultney C.S., Samocha K., Cicek A.E., Kou Y., Liu L., Fromer M., Walker S. et al.

Nature 515:209-215(2014) · UniProtKB (1)

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

D'Gama A.M., Woodworth M.B., Hossain A.A., Bizzotto S., Hatem N.E., LaCoursiere C.M., Najm I., Ying Z., Yang E., Barkovich A.J. et al.

Cell Rep 21:3754-3766(2017) · Mapped (1)

Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Poduri A., Evrony G.D., Cai X., Elhosary P.C., Beroukhim R., Lehtinen M.K., Hills L.B., Heinzen E.L., Hill A., Hill R.S. et al.

Neuron 74:41-48(2012) · UniProtKB (1) · Mapped (1)

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.

Smith R.S., Kenny C.J., Ganesh V., Jang A., Borges-Monroy R., Partlow J.N., Hill R.S., Shin T., Chen A.Y., Doan R.N. et al.

Neuron 99:905-913.e7(2018) · Mapped (7)

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.

Birk E., Har-Zahav A., Manzini C.M., Pasmanik-Chor M., Kornreich L., Walsh C.A., Noben-Trauth K., Albin A., Simon A.J., Colleaux L. et al.

Am. J. Hum. Genet. 87:694-700(2010) · UniProtKB (2) · Mapped (10)

SLC25A22 is a novel gene for migrating partial seizures in infancy.

Poduri A., Heinzen E.L., Chitsazzadeh V., Lasorsa F.M., Elhosary P.C., LaCoursiere C.M., Martin E., Yuskaitis C.J., Hill R.S., Atabay K.D. et al.

Ann. Neurol. 74:873-882(2013) · Mapped (2)

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.

Teber S., Sezer T., Kafali M., Manzini M.C., Konuk Yuksel B., Tekin M., Fitoz S., Walsh C.A., Deda G.

Eur. J. Paediatr. Neurol. 12:133-136(2008) · Mapped (5)

Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment.

Morrow E.M., Kane A., Goff D.C., Walsh C.A.

Schizophr. Res. 106:265-267(2008) · Mapped (2)

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Brancati F., Travaglini L., Zablocka D., Boltshauser E., Accorsi P., Montagna G., Silhavy J.L., Barrano G., Bertini E., Emma F. et al.

Clin. Genet. 74:164-170(2008) · Mapped (7)

Regulation of cerebral cortical size by control of cell cycle exit in neural precursors.

Chenn A., Walsh C.A.

Science 297:365-369(2002) · Mapped (32)

Reelin is expressed in the accessory olfactory system, but is not a guidance cue for vomeronasal axons.

Teillon S.M., Yiu G., Walsh C.A.

Brain Res. Dev. Brain Res. 140:303-307(2003) · Mapped (8)

1 to 25 of 132  Show
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again