‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects

Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries

(2019) Nicole Meier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ciliary kinesins beyond IFT: cilium length, disassembly, cargo transport and signaling

(2019) Madeline Louise Reilly et al.   BIOLOGY OF THE CELL

Kinesin Kif3b mutation reduces NMDAR subunit NR 2A trafficking and causes schizophrenia‐like phenotypes in mice

(2019) Ashwaq Hassan Alsabban et al.   EMBO JOURNAL

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome

(2018) Saud Alsahli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Genetics of Primary Microcephaly

(2018) Divya Jayaraman et al.   Annual Review of Genomics and Human Genetics

A New Way to Treat Brain Tumors: Targeting Proteins Coded by Microcephaly Genes?

(2018) Patrick Y. Lang et al.   BIOESSAYS

Hot-spot KIF5A mutations cause familial ALS

(2018) David Brenner et al.   BRAIN

Biallelic variants in KIF14 cause intellectual disability with microcephaly

(2018) Periklis Makrythanasis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

(2018) Monica H. Wojcik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Atypical Kinesin KIF26A Facilitates Termination of Nociceptive Responses by Sequestering Focal Adhesion Kinase

(2018) Li Wang et al.   Cell Reports

Loss of function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish

(2018) Madeline Louise Reilly et al.   HUMAN MOLECULAR GENETICS

UniProt: a worldwide hub of protein knowledge

(2018)   NUCLEIC ACIDS RESEARCH

Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy

(2017) Patrick M.A. Sleiman et al.   HUMAN MUTATION

Motoring through: the role of kinesin superfamily proteins in female meiosis

(2017) Nicole J. Camlin et al.   HUMAN REPRODUCTION UPDATE

Targeted Exome Sequencing IdentifiesPBX1as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

(2017) Laurence Heidet et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

KIF5Amutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

(2016) Jessica Duis et al.   ANNALS OF NEUROLOGY

Recent findings and future directions for interpolar mitotic kinesin inhibitors in cancer therapy

(2016) Stephanie M Myers et al.   Future Medicinal Chemistry

Chromokinesin: Kinesin superfamily regulating cell division through chromosome and spindle

(2016) Ai Zhong et al.   GENE

A mathematical model explains saturating axon guidance responses to molecular gradients

(2016) Huyen Nguyen et al.   eLife

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

(2015) S. Dimassi et al.   CLINICAL GENETICS

Kinesin superfamily proteins (KIFs): Various functions and their relevance for important phenomena in life and diseases

(2015) Nobutaka Hirokawa et al.   EXPERIMENTAL CELL RESEARCH

Overexpression ofKLC2due to a homozygous deletion in the non-coding region causes SPOAN syndrome

(2015) Uirá S. Melo et al.   HUMAN MOLECULAR GENETICS

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

(2015) Rik Westland et al.   KIDNEY INTERNATIONAL

Annual Summary of Vital Statistics: 2012-2013

(2015) M. J. K. Osterman et al.   PEDIATRICS

Kinesin superfamily proteins and the regulation of microtubule dynamics in morphogenesis

(2014) Shinsuke Niwa   ANATOMICAL SCIENCE INTERNATIONAL

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

(2014) Ghayda M. Mirzaa et al.   HUMAN GENETICS

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

(2014) Jae-Ran Lee et al.   HUMAN MUTATION

Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes

(2014) Isabel Filges et al.   PRENATAL DIAGNOSIS

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

(2013) I. Filges et al.   CLINICAL GENETICS

Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice

(2013) T. Mohun et al.   Disease Models & Mechanisms

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

(2013) Karine Poirier et al.   NATURE GENETICS

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

(2013) Stéphanie Valence et al.   NEUROGENETICS

Kif14 Mutation Causes Severe Brain Malformation and Hypomyelination

(2013) Kohei Fujikura et al.   PLoS One

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

(2012) Pia Ostergaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KIF16B/Rab14 Molecular Motor Complex Is Critical for Early Embryonic Development by Transporting FGF Receptor

(2011) Hitoshi Ueno et al.   DEVELOPMENTAL CELL

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia

(2010) Julien Tarabeux et al.   BIOLOGICAL PSYCHIATRY

Replication of KIF21B as a susceptibility locus for multiple sclerosis

(2010) A. Goris et al.   JOURNAL OF MEDICAL GENETICS

KIF26A Is an Unconventional Kinesin and Regulates GDNF-Ret Signaling in Enteric Neuronal Development

(2009) Ruyun Zhou et al.   CELL

Kinesin superfamily motor proteins and intracellular transport

(2009) Nobutaka Hirokawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Disruption of the mitotic kinesin Eg5 gene (Knsl1) results in early embryonic lethality

(2008) Muriel Chauvière et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

(2008) Yurii S Aulchenko et al.   NATURE GENETICS