Cargando…

Variants in LAMC3 Causes Occipital Cortical Malformation

Occipital cortical malformation (OCCM) is a disease caused by malformations of cortical development characterized by polymicrogyria and pachygyria of the occipital lobes and childhood-onset seizures. The recessive or complex heterozygous variants of the LAMC3 gene are identified as the cause of OCCM...

Descripción completa

Detalles Bibliográficos
Autores principales:	Qian, Xiaohang, Liu, Xiaoying, Zhu, Zeyu, Wang, Shige, Song, Xiaoxuan, Chen, Guang, Wu, Jingying, Cao, Yuwen, Luan, Xinghua, Tang, Huidong, Cao, Li
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8329496/ https://www.ncbi.nlm.nih.gov/pubmed/34354730 http://dx.doi.org/10.3389/fgene.2021.616761

Ejemplares similares

c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis
por: Jiang, Jingwen, et al.
Publicado: (2020)

Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review
por: Falcicchio, Giovanni, et al.
Publicado: (2023)

A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3
por: Abe, Kazuo, et al.
Publicado: (2022)

An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia
por: Wu, Jingying, et al.
Publicado: (2023)

Multi-Omics Characterization of Type 2 Diabetes Mellitus-Induced Cognitive Impairment in the db/db Mouse Model
por: Song, Xiaoxuan, et al.
Publicado: (2022)

Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutation
por: Demirayak, Pinar, et al.
Publicado: (2021)

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia
por: De Angelis, Carla, et al.
Publicado: (2021)

Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1
por: Pongmee, Pharuhad, et al.
Publicado: (2022)

Common variants in LAMC1 confer risk for pelvic organ prolapse in Chinese population
por: Chen, Juan, et al.
Publicado: (2020)

Occipital Neuralgia from C2 Cavernous Malformation
por: Ha, Sang-woo, et al.
Publicado: (2018)

Giant Occipital Encephalocele with Chiari Malformation Type 3
por: Kanesen, Davendran, et al.
Publicado: (2018)

LAMC2 is a potential prognostic biomarker for cholangiocarcinoma
por: Ong, Khaa Hoo, et al.
Publicado: (2023)

Role of Segregation for Variant Discovery in Multiplex Families Ascertained by Probands With Left Sided Cardiovascular Malformations
por: Martin, Lisa J., et al.
Publicado: (2019)

Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract
por: Young, Terri L., et al.
Publicado: (2022)

Association of miRNA targetome variants in LAMC1 and GNB3 genes with colorectal cancer and obesity
por: Gholami, Morteza, et al.
Publicado: (2022)

High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations
por: Scimone, Concetta, et al.
Publicado: (2020)

High LAMC1 expression in glioma is associated with poor prognosis
por: Liu, Jian, et al.
Publicado: (2019)

Teratogenic Genesis in Fetal Malformations
por: Kaleelullah, Roohi Afshan, et al.
Publicado: (2021)

Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations
por: Shen, Fang, et al.
Publicado: (2022)

Epidermolysa bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene
por: Murgiano, Leonardo, et al.
Publicado: (2015)

Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome
por: Liang, Lei, et al.
Publicado: (2023)

Posterior occipital intramuscular hemangioma mimicking arteriovenous malformation: Case report
por: Chen, Hao, et al.
Publicado: (2019)

Occipital posterior interhemispheric supratentorial approach for resection of midbrain cavernous malformation
por: Elarjani, Turki, et al.
Publicado: (2021)

LAMC1-mediated preadipocytes differentiation promoted peritoneum pre-metastatic niche formation and gastric cancer metastasis
por: Fang, Yan, et al.
Publicado: (2022)

Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency
por: Wang, Lan, et al.
Publicado: (2020)

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation
por: Barhoumi, Tlili, et al.
Publicado: (2019)

Case report: A novel homozygous variant in ZP3 is associated with human empty follicle syndrome
por: Kong, Na, et al.
Publicado: (2023)

Capillary Malformation–Arteriovenous Malformation Combined Alagille Syndrome in a Patient With Double Gene Variations of RASA1 and NOTCH2
por: Zheng, Yu, et al.
Publicado: (2019)

Wnt1 Lineage Specific Deletion of Gpr161 Results in Embryonic Midbrain Malformation and Failure of Craniofacial Skeletal Development
por: Kim, Sung-Eun, et al.
Publicado: (2021)

Trigeminal neuralgia secondary to onyx embolization of a right occipital arteriovenous malformation
por: El Houshiemy, Mohamad, et al.
Publicado: (2021)

Mitochondrial Myopathy, Encephalopathy, Lactic acidosis and Stroke-Like Episodes Syndrome Presenting With Anton-Babinski Syndrome and Concurrent Occipital Lobe Seizures
por: Ewida, Amr, et al.
Publicado: (2021)

Transcriptome and Comparative Chloroplast Genome Analysis of Vincetoxicum versicolor: Insights Into Molecular Evolution and Phylogenetic Implication
por: Yu, Xiaolei, et al.
Publicado: (2021)

Childhood assaultive trauma and physical aggression: Links with cortical thickness in prefrontal and occipital cortices
por: Bounoua, Nadia, et al.
Publicado: (2020)

Differential Roles for Parietal and Occipital Cortices in Visual Working Memory
por: Matsuyoshi, Daisuke, et al.
Publicado: (2012)

Recurrent Bilateral Occipital Infarct with Cortical Blindness and Anton Syndrome
por: Kwong Yew, Kiu, et al.
Publicado: (2014)

PLAU and LAMC2 can predict a poor prognosis in patients with HNSCC
por: Guo, Zhi-chen, et al.
Publicado: (2023)

New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
por: Sifre-Ruiz, Anna, et al.
Publicado: (2023)

Why Malformations of Cortical Development Cause Epilepsy
por: Represa, Alfonso
Publicado: (2019)

In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency
por: Xiao, Wen-Juan, et al.
Publicado: (2019)

Schwannoma of the greater occipital nerve: An uncommon cause of occipital neuralgia
por: Krishnan, Prasad, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_4tsap1jmp0a25sl87lovgg3n81