Literature DB >> 20387026

Novel approaches to studying the genetic basis of cerebellar development.

Samin A Sajan1, Kathryn E Waimey, Kathleen J Millen.   

Abstract

The list of genes that when mutated cause disruptions in cerebellar development is rapidly increasing. The study of both spontaneous and engineered mouse mutants has been essential to this progress, as it has revealed much of our current understanding of the developmental processes required to construct the mature cerebellum. Improvements in brain imaging, such as magnetic resonance imaging (MRI) and the emergence of better classification schemes for human cerebellar malformations, have recently led to the identification of a number of genes which cause human cerebellar disorders. In this review we argue that synergistic approaches combining classical molecular techniques, genomics, and mouse models of human malformations will be essential to fuel additional discoveries of cerebellar developmental genes and mechanisms.

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Year:  2010        PMID: 20387026      PMCID: PMC2921561          DOI: 10.1007/s12311-010-0169-6

Source DB:  PubMed          Journal:  Cerebellum        ISSN: 1473-4222            Impact factor:   3.847


  118 in total

Review 1.  Autism and abnormal development of brain connectivity.

Authors:  Matthew K Belmonte; Greg Allen; Andrea Beckel-Mitchener; Lisa M Boulanger; Ruth A Carper; Sara J Webb
Journal:  J Neurosci       Date:  2004-10-20       Impact factor: 6.167

2.  Anatomical, physiological and biochemical studies of the cerebellum from Reeler mutant mouse.

Authors:  J Mariani; F Crepel; K Mikoshiba; J P Changeux; C Sotelo
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  1977-11-02       Impact factor: 6.237

3.  Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.

Authors:  Inessa Grinberg; Hope Northrup; Holly Ardinger; Chitra Prasad; William B Dobyns; Kathleen J Millen
Journal:  Nat Genet       Date:  2004-08-29       Impact factor: 38.330

4.  Deletion of the neuron-specific protein delta-catenin leads to severe cognitive and synaptic dysfunction.

Authors:  Inbal Israely; Rui M Costa; Cui Wei Xie; Alcino J Silva; Kenneth S Kosik; Xin Liu
Journal:  Curr Biol       Date:  2004-09-21       Impact factor: 10.834

5.  Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

Authors:  Annie P Chiang; Darryl Nishimura; Charles Searby; Khalil Elbedour; Rivka Carmi; Amanda L Ferguson; Jenifer Secrist; Terry Braun; Thomas Casavant; Edwin M Stone; Val C Sheffield
Journal:  Am J Hum Genet       Date:  2004-07-16       Impact factor: 11.025

6.  Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

Authors:  Russell J Ferland; Wafaa Eyaid; Randall V Collura; Laura D Tully; R Sean Hill; Doha Al-Nouri; Ahmed Al-Rumayyan; Meral Topcu; Generoso Gascon; Adria Bodell; Yin Yao Shugart; Maryellen Ruvolo; Christopher A Walsh
Journal:  Nat Genet       Date:  2004-08-22       Impact factor: 38.330

7.  Highly restricted expression of Cre recombinase in cerebellar Purkinje cells.

Authors:  Xin-Mei Zhang; Alam Hoi-Lam Ng; Julian A Tanner; Wu-Tian Wu; Neal G Copeland; Nancy A Jenkins; Jian-Dong Huang
Journal:  Genesis       Date:  2004-09       Impact factor: 2.487

Review 8.  Dandy-Walker malformation: a review of 78 cases diagnosed by prenatal sonography.

Authors:  Recep Has; Hayri Ermiş; Atil Yüksel; Lem'i Ibrahimoğlu; Alkan Yildirim; Hande Delier Sezer; Seher Başaran
Journal:  Fetal Diagn Ther       Date:  2004 Jul-Aug       Impact factor: 2.587

9.  The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

Authors:  Melissa A Parisi; Craig L Bennett; Melissa L Eckert; William B Dobyns; Joseph G Gleeson; Dennis W W Shaw; Ruth McDonald; Allison Eddy; Phillip F Chance; Ian A Glass
Journal:  Am J Hum Genet       Date:  2004-05-11       Impact factor: 11.025

10.  Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Authors:  Tracy Dixon-Salazar; Jennifer L Silhavy; Sarah E Marsh; Carrie M Louie; Lesley C Scott; Aithala Gururaj; Lihadh Al-Gazali; Asma A Al-Tawari; Hulya Kayserili; László Sztriha; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2004-10-04       Impact factor: 11.025

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  10 in total

1.  Nuclear factor one X regulates the development of multiple cellular populations in the postnatal cerebellum.

Authors:  Michael Piper; Lachlan Harris; Guy Barry; Yee Hsieh Evelyn Heng; Celine Plachez; Richard M Gronostajski; Linda J Richards
Journal:  J Comp Neurol       Date:  2011-12-01       Impact factor: 3.215

2.  Tissue plasminogen activator regulates Purkinje neuron development and survival.

Authors:  Jianxue Li; Lili Yu; Xuesong Gu; Yinghua Ma; Renata Pasqualini; Wadih Arap; Evan Y Snyder; Richard L Sidman
Journal:  Proc Natl Acad Sci U S A       Date:  2013-05-14       Impact factor: 11.205

3.  MRI analysis of cerebellar and vestibular developmental phenotypes in Gbx2 conditional knockout mice.

Authors:  Kamila U Szulc; Brian J Nieman; Edward J Houston; Benjamin B Bartelle; Jason P Lerch; Alexandra L Joyner; Daniel H Turnbull
Journal:  Magn Reson Med       Date:  2013-02-07       Impact factor: 4.668

4.  Multidimensional analysis of fetal posterior fossa in health and disease.

Authors:  Deniz Vatansever; Vanessa Kyriakopoulou; Joanna M Allsop; Matthew Fox; Andrew Chew; Joseph V Hajnal; Mary A Rutherford
Journal:  Cerebellum       Date:  2013-10       Impact factor: 3.847

5.  Intracerebellar application of P19-derived neuroprogenitor and naive stem cells to Lurcher mutant and wild type B6CBA mice.

Authors:  Zbyněk Houdek; Jan Cendelín; Vlastimil Kulda; Václav Babuška; Miroslava Cedíková; Milena Králíčková; Jiří Pacherník; George B Stefano; František Vožeh
Journal:  Med Sci Monit       Date:  2012-05

6.  Cerebellum: links between development, developmental disorders and motor learning.

Authors:  Mario U Manto; Patrice Jissendi
Journal:  Front Neuroanat       Date:  2012-01-23       Impact factor: 3.856

7.  Profound morphological and functional changes of rodent Purkinje cells between the first and the second postnatal weeks: a metamorphosis?

Authors:  Isabelle Dusart; Frederic Flamant
Journal:  Front Neuroanat       Date:  2012-04-11       Impact factor: 3.856

8.  Glucocorticoid Induced Cerebellar Toxicity in the Developing Neonate: Implications for Glucocorticoid Therapy during Bronchopulmonary Dysplasia.

Authors:  Kevin K Noguchi
Journal:  Cells       Date:  2014-01-08       Impact factor: 6.600

9.  Foxc1 dependent mesenchymal signalling drives embryonic cerebellar growth.

Authors:  Parthiv Haldipur; Gwendolyn S Gillies; Olivia K Janson; Victor V Chizhikov; Divakar S Mithal; Richard J Miller; Kathleen J Millen
Journal:  Elife       Date:  2014-12-16       Impact factor: 8.140

Review 10.  Cellular commitment in the developing cerebellum.

Authors:  Hassan Marzban; Marc R Del Bigio; Javad Alizadeh; Saeid Ghavami; Robby M Zachariah; Mojgan Rastegar
Journal:  Front Cell Neurosci       Date:  2015-01-12       Impact factor: 5.505

  10 in total

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