Cargando…

KIF21A Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran

Congenital Fibrosis of the Extra Ocular Muscles1 (CFEOM1) is an autosomal dominant condition, caused by mutation in the KIF21A and TUBB3. It is characterized by congenital non-progressive restrictive ophthalmoplegia and ptosis. Mutational analysis of the known genes in such rare diseases by Sanger s...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ramahi, Masoomeh, Rad, Abolfazl, Shirzadeh, Ebrahim, Najafi, Maryam
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Avicenna Research Institute 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252030/ https://www.ncbi.nlm.nih.gov/pubmed/30555664

Ejemplares similares

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM)
por: Yang, Xian, et al.
Publicado: (2010)

Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations
por: Bianchi, Sarah, et al.
Publicado: (2016)

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
por: Chan, Wai-Man, et al.
Publicado: (2007)

Analysis of human sarcospan as a candidate gene for CFEOM1
por: O'Brien, Kristine F, et al.
Publicado: (2001)

Newly observed $\Lambda_c(2860)^+$ at LHCb and its \emph{D}-wave partners $\Lambda_c(2880)^+$, $\Xi_c(3055)^+$ and $\Xi_c(3080)^+$
por: Chen, Bing, et al.
Publicado: (2017)

Clinical and surgical data of affected members of a classic CFEOM 1 family
por: Magli, Adriano, et al.
Publicado: (2003)

Surgical management of hypotropia in congenital fibrosis of extraocular muscles (CFEOM) presented by pseudoptosis
por: Tawfik, Hatem A, et al.
Publicado: (2013)

Clinical analysis of 2860 cases of diabetes in pregnancy: a single-center retrospective study
por: Chen, Jia, et al.
Publicado: (2022)

Force generation of KIF1C is impaired by pathogenic mutations
por: Siddiqui, Nida, et al.
Publicado: (2022)

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX
por: Engle, Elizabeth C, et al.
Publicado: (2002)

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation
por: Patel, Ronak M., et al.
Publicado: (2017)

Abstract No. : ABS2860 : Comparative evaluation of conventional versus pulsed versus combined radiofrequency ablation for trigeminal neuralgia
por: Kumar, Amit
Publicado: (2022)

PTPN21 and Hook3 relieve KIF1C autoinhibition and activate intracellular transport
por: Siddiqui, Nida, et al.
Publicado: (2019)

Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy
por: Cuchanski, Mathieu, et al.
Publicado: (2018)

R869C mutation in molecular motor KIF17 gene is involved in dementia with Lewy bodies
por: Goldstein, Orly, et al.
Publicado: (2021)

Novel Dendritic Kinesin Sorting Identified by Different Process Targeting of Two Related Kinesins: KIF21A and KIF21B
por: Marszalek, Joseph R., et al.
Publicado: (1999)

Draft Genome Sequence of Pseudomonas sp. Strain MWU13-2860, Isolated from a Wild Cranberry Bog in Truro, Massachusetts
por: Ebadzadsahrai, Ghazal, et al.
Publicado: (2018)

Unplanned Readmissions after Spine Surgery: A Single-Center Prospective Analysis of a 90-Day Model in 2,860 Cases
por: Avinash, Mahender, et al.
Publicado: (2020)

TUBB3 and KIF21A in neurodevelopment and disease
por: Puri, Dharmendra, et al.
Publicado: (2023)

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
por: Asselin, Laure, et al.
Publicado: (2020)

Maternal death due to COVID‐19 and high BMI: A case report from Hamadan, Iran
por: Ghelichkhani, Samereh, et al.
Publicado: (2022)

Functional characterization of MCAK/Kif2C cancer mutations using high-throughput microscopic analysis
por: Wagenbach, Mike, et al.
Publicado: (2020)

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis
por: Chen, Jianfan, et al.
Publicado: (2023)

Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia
por: Ying, Ming, et al.
Publicado: (2013)

Bilateral Chemical Burns of the Cornea Due to Limewater: A Specific Case
por: Shirzadeh, Ebrahim
Publicado: (2013)

It's complicated: the interplay of Kif1c mRNA localization in cell protrusions, assembly of protein binding partners on the KIF1C protein, and cell migration
por: Sarfraz, Nadia, et al.
Publicado: (2023)

Lactate is associated with mortality in very old intensive care patients suffering from COVID-19: results from an international observational study of 2860 patients
por: Bruno, Raphael Romano, et al.
Publicado: (2021)

Design and Implementation of a Software for Teaching Health Related Topics to Deaf Students: the First Experience in Iran
por: Ahmadi, Maryam, et al.
Publicado: (2015)

Methylenetetrahydrofolate Reductase C677T and A1298C Mutations in Women with Recurrent Spontaneous Abortions in the Northwest of Iran
por: Poursadegh Zonouzi, Ahmad, et al.
Publicado: (2012)

KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3
por: Chen, Jingchang, et al.
Publicado: (2016)

Abundant kif21b is associated with accelerated progression in neurodegenerative diseases
por: Kreft, Karim L, et al.
Publicado: (2014)

Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter
por: AL-Faisal, A. H. M., et al.
Publicado: (2012)

Kinesin Family of Proteins Kif11 and Kif21B Act as Inhibitory Constraints of Excitatory Synaptic Transmission Through Distinct Mechanisms
por: Swarnkar, Supriya, et al.
Publicado: (2018)

Nephrotic-syndrome-associated mutation of KANK2 induces pathologic binding competition with physiological interactor KIF21A
por: Xu, Yuqun, et al.
Publicado: (2021)

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
por: Whitman, Mary C., et al.
Publicado: (2021)

Tobacco smoking and blood parameters in the kurdish population of Iran
por: Shakiba, Ebrahim, et al.
Publicado: (2023)

TRIM3 Regulates the Motility of the Kinesin Motor Protein KIF21B
por: Labonté, Dorthe, et al.
Publicado: (2013)

Kinesin-4 KIF21B is a potent microtubule pausing factor
por: van Riel, Wilhelmina E, et al.
Publicado: (2017)

Kif21a deficiency leads to impaired glomerular filtration barrier function
por: Riedmann, Hanna, et al.
Publicado: (2023)

KIF2C promotes the proliferation of hepatocellular carcinoma cells in vitro and in vivo
por: Gao, Zhenya, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_qbubat3knnqiiapf2enudt3iav