Literature DB >> 26384676

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

Mara Cavallin1,2, Laurence Hubert1,3, Vincent Cantagrel1,4, Arnold Munnich1,3,5, Nathalie Boddaert6,7, Catherine Vincent-Delorme8, Jean Christophe Cuvellier9, Cecile Masson10, Claude Besmond3, Nadia Bahi-Buisson11,12,13,14.   

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Year:  2015        PMID： 26384676     DOI： 10.1007/s10048-015-0459-8

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  6 in total

1.  An atomic-level mechanism for activation of the kinesin molecular motors.

Authors:  Charles V Sindelar; Kenneth H Downing
Journal:  Proc Natl Acad Sci U S A       Date:  2010-02-16       Impact factor: 11.205

2.  KIF5C, a novel neuronal kinesin enriched in motor neurons.

Authors:  Y Kanai; Y Okada; Y Tanaka; A Harada; S Terada; N Hirokawa
Journal:  J Neurosci       Date:  2000-09-01       Impact factor: 6.167

3.  Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

Authors:  Marjolein H Willemsen; Wei Ba; Willemijn M Wissink-Lindhout; Arjan P M de Brouwer; Stefan A Haas; Melanie Bienek; Hao Hu; Lisenka E L M Vissers; Hans van Bokhoven; Vera Kalscheuer; Nael Nadif Kasri; Tjitske Kleefstra
Journal:  J Med Genet       Date:  2014-05-08       Impact factor: 6.318

4.  Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

Authors:  Karine Poirier; Nicolas Lebrun; Loic Broix; Guoling Tian; Yoann Saillour; Cécile Boscheron; Elena Parrini; Stephanie Valence; Benjamin Saint Pierre; Madison Oger; Didier Lacombe; David Geneviève; Elena Fontana; Franscesca Darra; Claude Cances; Magalie Barth; Dominique Bonneau; Bernardo Dalla Bernadina; Sylvie N'guyen; Cyril Gitiaux; Philippe Parent; Vincent des Portes; Jean Michel Pedespan; Victoire Legrez; Laetitia Castelnau-Ptakine; Patrick Nitschke; Thierry Hieu; Cecile Masson; Diana Zelenika; Annie Andrieux; Fiona Francis; Renzo Guerrini; Nicholas J Cowan; Nadia Bahi-Buisson; Jamel Chelly
Journal:  Nat Genet       Date:  2013-04-21       Impact factor: 38.330

5.  Somatic mutations in cerebral cortical malformations.

Authors:  Saumya S Jamuar; Anh-Thu N Lam; Martin Kircher; Alissa M D'Gama; Jian Wang; Brenda J Barry; Xiaochang Zhang; Robert Sean Hill; Jennifer N Partlow; Aldo Rozzo; Sarah Servattalab; Bhaven K Mehta; Meral Topcu; Dina Amrom; Eva Andermann; Bernard Dan; Elena Parrini; Renzo Guerrini; Ingrid E Scheffer; Samuel F Berkovic; Richard J Leventer; Yiping Shen; Bai Lin Wu; A James Barkovich; Mustafa Sahin; Bernard S Chang; Michael Bamshad; Deborah A Nickerson; Jay Shendure; Annapurna Poduri; Timothy W Yu; Christopher A Walsh
Journal:  N Engl J Med       Date:  2014-08-21       Impact factor: 91.245

Review 6.  A developmental and genetic classification for malformations of cortical development: update 2012.

Authors:  A James Barkovich; Renzo Guerrini; Ruben I Kuzniecky; Graeme D Jackson; William B Dobyns
Journal:  Brain       Date:  2012-03-16       Impact factor: 13.501
  6 in total
  9 in total

Review 1.  Comprehensive genotype-phenotype correlation in lissencephaly.

Authors:  Ai Peng Tan; Wui Khean Chong; Kshitij Mankad
Journal:  Quant Imaging Med Surg       Date:  2018-08

2.  Lissencephaly: Expanded imaging and clinical classification.

Authors:  Nataliya Di Donato; Sara Chiari; Ghayda M Mirzaa; Kimberly Aldinger; Elena Parrini; Carissa Olds; A James Barkovich; Renzo Guerrini; William B Dobyns
Journal:  Am J Med Genet A       Date:  2017-04-25       Impact factor: 2.802

3.  A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

Authors:  Sandra Jansen; Alexander Hoischen; Bradley P Coe; Gemma L Carvill; Hilde Van Esch; Daniëlle G M Bosch; Ulla A Andersen; Carl Baker; Marijke Bauters; Raphael A Bernier; Bregje W van Bon; Hedi L Claahsen-van der Grinten; Jozef Gecz; Christian Gilissen; Lucia Grillo; Anna Hackett; Tjitske Kleefstra; David Koolen; Malin Kvarnung; Martin J Larsen; Carlo Marcelis; Fiona McKenzie; Marie-Lorraine Monin; Caroline Nava; Janneke H Schuurs-Hoeijmakers; Rolph Pfundt; Marloes Steehouwer; Servi J C Stevens; Connie T Stumpel; Fleur Vansenne; Mirella Vinci; Maartje van de Vorst; Petra de Vries; Kali Witherspoon; Joris A Veltman; Han G Brunner; Heather C Mefford; Corrado Romano; Lisenka E L M Vissers; Evan E Eichler; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2017-12-05       Impact factor: 4.246

4.  Recurrent KIF2A mutations are responsible for classic lissencephaly.

Authors:  Mara Cavallin; Emilia K Bijlsma; Adrienne El Morjani; Sébastien Moutton; Els A J Peeters; Camille Maillard; Jean Michel Pedespan; Anne-Marie Guerrot; Valérie Drouin-Garaud; Christine Coubes; David Genevieve; Christine Bole-Feysot; Cecile Fourrage; Julie Steffann; Nadia Bahi-Buisson
Journal:  Neurogenetics       Date:  2016-10-17       Impact factor: 2.660

5.  Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

Authors:  Elisenda Cortès-Saladelafont; Noa Lipstein; Àngels García-Cazorla
Journal:  J Inherit Metab Dis       Date:  2018-07-18       Impact factor: 4.982

6.  Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.

Authors:  Savannah Michels; Kimberly Foss; Kaylee Park; Katie Golden-Grant; Russell Saneto; Jonathan Lopez; Ghayda M Mirzaa
Journal:  Am J Med Genet A       Date:  2017-10-19       Impact factor: 2.802

7.  KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.

Authors:  Wanxing Li; Tianling Cheng; Xinran Dong; Huiyao Chen; Lin Yang; Zilong Qiu; Wenhao Zhou
Journal:  Pediatr Res       Date:  2021-12-29       Impact factor: 3.953

8.  Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Authors:  Nataliya Di Donato; Andrew E Timms; Kimberly A Aldinger; Ghayda M Mirzaa; James T Bennett; Sarah Collins; Carissa Olds; Davide Mei; Sara Chiari; Gemma Carvill; Candace T Myers; Jean-Baptiste Rivière; Maha S Zaki; Joseph G Gleeson; Andreas Rump; Valerio Conti; Elena Parrini; M Elizabeth Ross; David H Ledbetter; Renzo Guerrini; William B Dobyns
Journal:  Genet Med       Date:  2018-04-19       Impact factor: 8.864

9.  Kinesin-1-mediated axonal transport of CB1 receptors is required for cannabinoid-dependent axonal growth and guidance.

Authors:  Trinidad M M Saez; Iván Fernandez Bessone; María S Rodriguez; Matías Alloatti; María G Otero; Lucas E Cromberg; Victorio M Pozo Devoto; Gonzalo Oubiña; Lucas Sosa; Mariano G Buffone; Diego M Gelman; Tomás L Falzone
Journal:  Development       Date:  2020-04-20       Impact factor: 6.862
  9 in total

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