Cargando…

Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile Polymorphisms with Congenital Cataract and Microphthalmia

PURPOSE: To investigate the association of FOXE3-p.Ala170Ala (rs34082359) and PITX3-p.Ile95Ile (rs2281983) polymorphisms with congenital cataract and microphthalmia in a western Indian population. METHODS: FOXE3-p.Ala170Ala (c.510C>T) and PITX3-p.Ile95Ile (c.285C>T) polymorphisms were genotype...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vidya, Nair Gopinathan, Ganatra, Darshini, Vasavada, Abhay R., Rajkumar, Sankaranarayanan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2018
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210873/ https://www.ncbi.nlm.nih.gov/pubmed/30479708 http://dx.doi.org/10.4103/jovr.jovr_193_17

Ejemplares similares

The secondary KIT mutation p.Ala510Val in a cutaneous mast cell tumour carrying the activating mutation p.Asn508Ile confers resistance to masitinib in dogs
por: Gentilini, Fabio, et al.
Publicado: (2020)

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
por: Neeve, Vivienne C. M., et al.
Publicado: (2012)

Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation
por: Kuuluvainen, Liina, et al.
Publicado: (2019)

Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome
por: Artamonova, Irina N., et al.
Publicado: (2023)

Reclassification of the BRAF p.Ile208Val variant by case-level data sharing
por: Grant, Andrew R., et al.
Publicado: (2018)

Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation
por: López-Rubio, Salvador, et al.
Publicado: (2018)

Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia
por: Muriello, Michael J., et al.
Publicado: (2017)

Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr
por: Li, Dandan, et al.
Publicado: (2020)

Z-Ala–Ile-OH, a dipeptide building block suitable for the formation of orthorhombic microtubes
por: Gessmann, Renate, et al.
Publicado: (2023)

Association of the TBK1 mutation p.Ile334Thr with frontotemporal dementia and literature review
por: Yu, Huiling, et al.
Publicado: (2019)

MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
por: Onuma, Shinsuke, et al.
Publicado: (2020)

The Fibroblast Growth Factor Receptor 2 p.Ala172Phe Mutation in Pfeiffer Syndrome—History Repeating Itself
por: Jay, Sally, et al.
Publicado: (2013)

Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans
por: Rymer, Karen, et al.
Publicado: (2019)

The Pathogenic Mechanism of the ATP2C1 p.Ala109_Gln120del Mutation in Hailey–Hailey Disease
por: Li, Peiyao, et al.
Publicado: (2022)

The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults
por: Zagari, Maria Carmela, et al.
Publicado: (2022)

Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients
por: Lafontaine, Maxime, et al.
Publicado: (2021)

BRCA2 genemutation, c.2808_2811delACAA (p.Ala938Profs), in malebreastcancer – clinicopathologicalanalysisbased on a case report
por: Huszno, Joanna, et al.
Publicado: (2020)

Assignment of the Ile, Leu, Val, Met and Ala methyl group resonances of the DEAD-box RNA helicase DbpA from E. coli
por: Wurm, Jan Philip
Publicado: (2020)

Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)
por: Finsterer, Josef, et al.
Publicado: (2016)

Profiling of the germline mutation BRCA1: p.Ile1845fs in a large cohort of Han Chinese breast cancer
por: Wu, Yu, et al.
Publicado: (2019)

Renal Damage in Recurrent Atypical Hemolytic Uremic Syndrome Associated with C3 p.Ile1157Thr Gene Mutation
por: Okabe, Masahiro, et al.
Publicado: (2020)

A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
por: Paolo, Cavarzere, et al.
Publicado: (2022)

Novel PKD2 Missense Mutation p.Ile424Ser in an Individual with Multiple Hepatic Cysts: A Case Report
por: Miura, Seiko, et al.
Publicado: (2022)

Sex-specific effect of CPB2 Ala147Thr but not Thr325Ile variants on the risk of venous thrombosis: A comprehensive meta-analysis
por: Zwingerman, Nora, et al.
Publicado: (2017)

Complete assignment of Ala, Ile, Leu(ProS), Met and Val(ProS) methyl groups of the protruding domain from human norovirus GII.4 Saga
por: Müller-Hermes, Christoph, et al.
Publicado: (2020)

Dr. Kathleen Iles
Publicado: (1980)

Association of FAAH p.Pro129Thr and COMT p.Ala72Ser with schizophrenia and comorbid substance use through next-generation sequencing: an exploratory analysis
por: Martínez-Magaña, José J., et al.
Publicado: (2021)

Iles Salomon Musique de Guadalcanal.
Publicado: (1994)

Hereditary myotonia in cats associated with a new homozygous missense variant p.Ala331Pro in the muscle chloride channel ClC‐1
por: Corrêa, Sílvia, et al.
Publicado: (2023)

Correction to: A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
por: Cavarzere, Paolo, et al.
Publicado: (2022)

Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology
por: Gomez-Sequeda, Nicolas, et al.
Publicado: (2023)

Trichostatin A Restores Expression of Adherens and Tight Junction Proteins during Transforming Growth Factor β-Mediated Epithelial-to-Mesenchymal Transition
por: Ganatra, Darshini A., et al.
Publicado: (2018)

Boc-AzAla-Ala-OMe
por: Abbas, Cécile, et al.
Publicado: (2009)

A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa
por: Al-Johani, Saud, et al.
Publicado: (2022)

The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function
por: Hu, Yuepeng, et al.
Publicado: (2023)

La presqu'île / Julien Gracq.
por: Gracq, Julien, 1910-2007
Publicado: (1970)

L'{circ}ile : une oeuvre /
por: Merle, Robert, 1908-2004
Publicado: (1987)

The Frequent Adiponutrin (PNPLA3) Variant p.Ile148Met Is Associated with Early Liver Injury: Analysis of a German Pediatric Cohort
por: Krawczyk, Marcin, et al.
Publicado: (2015)

L'île des esclaves
por: Marivaux, Pierre Carlet de Chamblain de, 1688-1763
Publicado: (1999)

L'ile des pingouins
por: France, Anatole, 1844-1924
Publicado: (1908)

Cannot write session to /tmp/vufind_sessions/sess_3l0k6lspvcoc0rd0ch5suir73c