Results 91 to 100 of about 13,805 (257)

DCX knockout ferret reveals a neurogenic mechanism in cortical development

open access: yesCell Reports
Summary: Lissencephaly is a rare brain malformation for which our understanding remains limited due to the absence of suitable animal models that accurately represent human phenotypes.
Wei Wang   +12 more
doaj   +1 more source

TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity

open access: yesbioRxiv, 2018
‘Tubulinopathies’ are severe human brain malformations associated with mutations in tubulin genes. Despite the identification of many tubulin mutations in patients, we do not understand how these mutations impact the microtubule cytoskeleton, how the ...
Jayne Aiken, J. K. Moore, E. Bates
semanticscholar   +1 more source

A case of epigastric heteropagus twinning with other congenital abnormalities in a Chihuahua puppy [PDF]

open access: yes, 2012
A two-year-old Chihuahua was presented on day 58 of pregnancy due to very marked abdominal distension. A cesarean section was performed and five normal and one clearly abnormal puppy were delivered.
Barrand, KR, Cornillie, Pieter, House, J
core  

Methodological advances in imaging intravital axonal transport [PDF]

open access: yes, 2017
Axonal transport is the active process whereby neurons transport cargoes such as organelles and proteins anterogradely from the cell body to the axon terminal and retrogradely in the opposite direction.
Schiavo, G   +3 more
core   +5 more sources

Altered thalamocortical tract trajectory growth with undisrupted thalamic parcellation pattern in human lissencephaly brain at mid-gestational stage

open access: yesNeurobiology of Disease
Proper topographically organized neural connections between the thalamus and the cerebral cortex are mandatory for thalamus function. Thalamocortical (TC) fiber growth begins during the embryonic period and completes by the third trimester of gestation ...
Sheng-Min Huang   +4 more
doaj   +1 more source

MALFORMATIONS OF CENTRAL NERVOUS SYSTEM: GENERAL ISSUES [PDF]

open access: yes, 2013
Malformations of the central nervous system (CNS) encompass a heterogeneous group of congenital anomalies that may be isolated or appear as part of a genetic syndrome.
Alongi,A   +9 more
core  

Identification of Alternative Transcription Start Sites that Generate Neuron-Specific nhsl1b Isoform that Regulates Neuron Migration [PDF]

open access: yes, 2020
Identification of Alternative Transcription Start Sites that Generate Neuron-Specific nhsl1b Isoform that Regulates Neuron Migration Abanoub Bector, Depts. of Biology and Chemistry, with Dr. Sarah Golding, Dept.
Bector, Abanoub
core   +1 more source

Haploinsufficiency of DNA damage response genes and their potential influence in human genomic disorders [PDF]

open access: yes, 2008
Genomic disorders are a clinically diverse group of conditions caused by gain, loss or re-orientation of a genomic region containing dosage-sensitive genes.
O'Driscoll, Mark
core   +4 more sources

Characterizing the morbid genome of ciliopathies [PDF]

open access: yes, 2016
Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome ...
A Poretti   +75 more
core   +1 more source

Aberrant sorting of hippocampal complex pyramidal cells in type I lissencephaly alters topological innervation

open access: yeseLife, 2020
Layering has been a long-appreciated feature of higher order mammalian brain structures but the extent to which it plays an instructive role in synaptic specification remains unknown.
James A D'Amour   +4 more
doaj   +1 more source

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