Ferland, Russell J., Batiz, Luis Federico, Neal, Jason, Lian, Gewei, Bundock, Elizabeth, Lu, Jie, ...
Periventricular heterotopia (PH) is a disorder characterized by neuronal nodules, ectopically positioned along the lateral ventricles of the cerebral cortex. Mutations in either of two human genes,...
HUMAN BRAIN MALFORMATIONS AND THEIR LESSONS FOR NEURONAL MIGRATION (2008)
M Elizabeth Ross, Christopher A Walsh
mental retardation ■ Abstract The developmental steps required to build a brain have been recognized as a distinctive sequence since the turn of the twentieth century. As marking tools for...
Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination (2008)
Pawlisz, Ashley S., Mutch, Christopher, Wynshaw-Boris, Anthony, Chenn, Anjen, Walsh, Christopher A., Feng, Yuanyi
Neurons in the cerebral cortex originate predominantly from asymmetrical divisions of polarized radial glial or neuroepithelial cells. Fate control of neural progenitors through regulating cell...
Cubelos, Beatriz, Sebastián-Serrano, Alvaro, Kim, Seonhee, Moreno-Ortiz, Carmen, Redondo, Juan Miguel, Walsh, Christopher A., ...
Whereas neurons of the lower layers (VI–V) of the cerebral cortex are first born from dividing precursors at the ventricular zone, upper layer neurons (II–IV) subsequently arise from divisions of...
Disease-associated mutations affect GPR56 protein trafficking and cell surface expression (2007)
Jin, Zhaohui, Tietjen, Ian, Bu, Lihong, Liu-Yesucevitz, Liqun, Gaur, Shantanu K., Walsh, Christopher A., ...
Bilateral frontoparietal polymicrogyria (BFPP) is a congenital brain malformation resulting in irregularities on the surface of the cortex, where normally convoluted gyri are replaced by numerous...
Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Black, Graeme C M, Bieth, Eric, ...
Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay....
Weining Lu, Fabiola Quintero-Rivera, Yanli Fan, Fowzan S. Alkuraya, Diana J. Donovan, Qiongchao Xi, ...
Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We...
Quintero-Rivera, Fabiola, Fan, Yanli, Alkuraya, Fowzan S, Donovan, Diana J, Xi, Qiongchao, ...
Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We...
SRPX2 mutations in disorders of language cortex and cognition (2006)
Roll, Patrice, Rudolf, Gabrielle, Pereira, Sandrine, Royer, Barbara, Scheffer, Ingrid E., Massacrier, Annick, ...
The rolandic and sylvian fissures divide the human cerebral hemispheres and the adjacent areas participate in speech processing. The relationship of rolandic (sylvian) seizure disorders with speech...
Sun, Tao, Collura, Randall V., Ruvolo, Maryellen, Walsh, Christopher A.
In the human brain, the left and right hemispheres are anatomically asymmetric and have distinctive cognitive function, although the molecular basis for this asymmetry has not yet been characterized....
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome (2005)
Lee, Christine K, Chang, Bernard S, Bodell, Adria L, Pai, G Shashidhar, Job, Leela, ...
Walker-Warburg syndrome (WWS) is an autosomal recessive disorder of infancy characterized by hydrocephalus, agyria, retinal dysplasia, congenital muscular dystrophy, and over migration of neurons...
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size (2005)
Bond, Jacquelyn, Roberts, Emma, Springell, Kelly, Lizarraga, Sophia, Scott, Sheila, Higgins, Julie, ...
Autosomal recessive primary microcephaly is a potential model in which to research genes involved in human brain growth. We show that two forms of the disorder result from homozygous mutations in the...
Kouprina, Natalay, Pavlicek, Adam, Collins, N. Keith, Nakano, Megumi, Noskov, Vladimir N., Ohzeki, Jun-Ichirou, ...
The most common cause of primary autosomal recessive microcephaly (MCPH) appears to be mutations in the ASPM gene which is involved in the regulation of neurogenesis. The predicted gene product...
Kouprina, Natalay, Pavlicek, Adam, Keith Collins, N., Nakano, Megumi, Noskov, Vladimir N., Ohzeki, Jun-Ichirou, ...
The most common cause of primary autosomal recessive microcephaly (MCPH) appears to be mutations in the ASPM gene which is involved in the regulation of neurogenesis. The predicted gene product...
Natalay Kouprina, Adam Pavlicek, Ganeshwaran H. Mochida, Gregory Solomon, William Gersch, Young-Ho Yoon, ...
Mutation of the ASPM gene is associated with abnormally small brain size. Comparison of the ASPM gene from several primate species suggests it as a target of evolutionary selection for increased...
Natalay Kouprina, Adam Pavlicek, Ganeshwaran H. Mochida, Gregory Solomon, William Gersch, Young-Ho Yoon, ...
Primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by global reduction in cerebral cortical volume. The microcephalic brain has a volume comparable to that of early hominids,...
Protein-truncating mutations in ASPM cause variable reduction in brain size (2003)
Scott, Sheila, Hampshire, Daniel J, Springell, Kelly, Corry, Peter, Abramowicz, Marc J, ...
Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human autosomal recessive primary microcephaly (MCPH), a condition in which there is a failure of normal...
Chenn, Anjen, Walsh, Christopher A.
β-Catenin can function in the decision of neural precursors to proliferate or differentiate during mammalian neuronal development and may regulate cerebral cortical size by controlling the...
Sheen, Volney L., Feng, Yuanyi, Graham, Donna, Takafuta, Toshiro, Shapiro, Sandor S., Walsh, Christopher A.
Mutations in the X-linked gene Filamin A (FLNA) lead to the human neurological disorder, periventricular heterotopia (PH). Although PH is characterized by a failure in neuronal migration into the...
Sheen, Volney L., Dixon, Peter H., Fox, Jeremy W., Hong, Susan E., Kinton, Lucy, Sisodiya, Sanjay M., ...
Periventricular heterotopia (PH) is a human neuronal migration disorder in which many neurons destined for the cerebral cortex fail to migrate. Previous analysis showed heterozygous mutations in the...
Coexistence of Widespread Clones and Large Radial Clones in Early Embryonic Ferret Cortex (1999)
Ware, Marcus L., Tavazoie, Sohail F., Reid, Christopher B., Walsh, Christopher A.
Cell lineage analysis in rodents has shown that the cerebral cortex is formed from both widespread and large radial clustered clones representing partly distinct lineages and producing differing cell...
Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion
Kouprina, Natalay, Pavlicek, Adam, Mochida, Ganeshwaran H, Solomon, Gregory, Gersch, William, Yoon, Young-Ho, ...
Primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by global reduction in cerebral cortical volume. The microcephalic brain has a volume comparable to that of early hominids,...
Imitola, Jaime, Raddassi, Khadir, Park, Kook In, Mueller, Franz-Josef, Nieto, Marta, Teng, Yang D., ...
Migration toward pathology is the first critical step in stem cell engagement during regeneration. Neural stem cells (NSCs) migrate through the parenchyma along nonstereotypical routes in a precise...
Shen, Jun, Walsh, Christopher A.
5′-TG-3′-interacting factor or transforming growth factor beta (TGF-β)-induced factor (TGIF) belongs to a family of evolutionarily conserved proteins that are characterized by an atypical...
Soukoulis, Victor, Reddy, Samyukta, Pooley, Ryan D., Feng, Yuanyi, Walsh, Christopher A., Bader, David M.
LIS1 and nuclear distribution gene E (NudE) are partner proteins in a conserved pathway regulating the function of dynein and microtubules. Here, we present data that cytoplasmic LEK1 (cytLEK1), a...
Gleeson, Joseph G., Minnerath, Sharon, Kuzniecky, Ruben I., Dobyns, William B., Young, Ian D., Ross, M. Elizabeth, ...
Mutations in the X-linked gene doublecortin lead to “double cortex” syndrome (DC) in females and to X-linked lissencephaly (XLIS) in males. Because most patients with DC and XLIS are sporadic,...
Periventricular Heterotopia: New Insights into Ehlers-Danlos Syndrome
Sheen, Volney L., Walsh, Christopher A.
Nature often employs similar mechanisms to complete similar tasks, thus the evolution of homologous proteins across various organ systems to perform similar but slightly different functions. In this...
Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion
Kouprina, Natalay, Pavlicek, Adam, Mochida, Ganeshwaran H, Solomon, Gregory, Gersch, William, Yoon, Young-Ho, ...
Primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by global reduction in cerebral cortical volume. The microcephalic brain has a volume comparable to that of early hominids,...
An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21
Piao, Xianhua, Basel-Vanagaite, Lina, Straussberg, Rachel, Grant, P. Ellen, Pugh, Elizabeth W., Doheny, Kim, ...
Polymicrogyria is a cerebral cortical malformation that is grossly characterized by excessive cortical folding and microscopically characterized by abnormal cortical layering. Although polymicrogyria...
Beltrán-Valero de Bernabé, Daniel, Currier, Sophie, Steinbrecher, Alice, Celli, Jacopo, Van Beusekom, Ellen, Van der Zwaag, Bert, ...
Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder characterized by congenital muscular dystrophy and complex brain and eye abnormalities. A similar combination of...
Imitola, Jaime, Raddassi, Khadir, Park, Kook In, Mueller, Franz-Josef, Nieto, Marta, Teng, Yang D., ...
Migration toward pathology is the first critical step in stem cell engagement during regeneration. Neural stem cells (NSCs) migrate through the parenchyma along nonstereotypical routes in a precise...
Shen, Jun, Walsh, Christopher A.
5′-TG-3′-interacting factor or transforming growth factor beta (TGF-β)-induced factor (TGIF) belongs to a family of evolutionarily conserved proteins that are characterized by an atypical...
Soukoulis, Victor, Reddy, Samyukta, Pooley, Ryan D., Feng, Yuanyi, Walsh, Christopher A., Bader, David M.
LIS1 and nuclear distribution gene E (NudE) are partner proteins in a conserved pathway regulating the function of dynein and microtubules. Here, we present data that cytoplasmic LEK1 (cytLEK1), a...
Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size
Bond, Jacquelyn, Scott, Sheila, Hampshire, Daniel J., Springell, Kelly, Corry, Peter, Abramowicz, Marc J., ...
Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human autosomal recessive primary microcephaly (MCPH), a condition in which there is a failure of normal...
Gleeson, Joseph G., Minnerath, Sharon, Kuzniecky, Ruben I., Dobyns, William B., Young, Ian D., Ross, M. Elizabeth, ...
Mutations in the X-linked gene doublecortin lead to “double cortex” syndrome (DC) in females and to X-linked lissencephaly (XLIS) in males. Because most patients with DC and XLIS are sporadic,...
Periventricular Heterotopia: New Insights into Ehlers-Danlos Syndrome
Sheen, Volney L., Walsh, Christopher A.
Nature often employs similar mechanisms to complete similar tasks, thus the evolution of homologous proteins across various organ systems to perform similar but slightly different functions. In this...
NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects
Lu, Weining, Quintero-Rivera, Fabiola, Fan, Yanli, Alkuraya, Fowzan S, Donovan, Diana J, Xi, Qiongchao, ...
Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We...
Filamin A (FLNA) is required for cell–cell contact in vascular development and cardiac morphogenesis
Feng, Yuanyi, Chen, Ming Hui, Moskowitz, Ivan P., Mendonza, Ashley M., Vidali, Luis, Nakamura, Fumihiko, ...
Mutations in the human Filamin A (FLNA) gene disrupt neuronal migration to the cerebral cortex and cause cardiovascular defects. Complete loss of Flna in mice results in embryonic lethality with...
Identification of Neural Outgrowth Genes using Genome-Wide RNAi
Sepp, Katharine J., Hong, Pengyu, Lizarraga, Sofia B., Liu, Judy S., Mejia, Luis A., Walsh, Christopher A., ...
While genetic screens have identified many genes essential for neurite outgrowth, they have been limited in their ability to identify neural genes that also have earlier critical roles in the...
Lis1–Nde1-dependent neuronal fate control determines cerebral cortical size and lamination
Pawlisz, Ashley S., Mutch, Christopher, Wynshaw-Boris, Anthony, Chenn, Anjen, Walsh, Christopher A., Feng, Yuanyi
Neurons in the cerebral cortex originate predominantly from asymmetrical divisions of polarized radial glial or neuroepithelial cells. Fate control of neural progenitors through regulating cell...
Insights into the gyrification of developing ferret brain by magnetic resonance imaging
Neal, Jason, Takahashi, Masaya, Silva, Matthew, Tiao, Grace, Walsh, Christopher A, Sheen, Volney L
The developmental mechanisms underlying the formation of human cortical convolutions (gyri and sulci) remain largely unknown. Genetic causes of lissencephaly (literally ‘smooth brain’) would...
Alazami, Anas M., Al-Saif, Amr, Al-Semari, Abdulaziz, Bohlega, Saeed, Zlitni, Soumaya, Alzahrani, Fatema, ...
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. We have...
Detecting natural selection by empirical comparison to random regions of the genome
Yu, Fuli, Keinan, Alon, Chen, Hua, Ferland, Russell J., Hill, Robert S., Mignault, Andre A., ...
Historical episodes of natural selection can skew the frequencies of genetic variants, leaving a signature that can persist for many tens or even hundreds of thousands of years. However, formal tests...