PMC Links for Gene (Select 5080) - PMC

Tatyana A. Vasilyeva, Andrey V. Marakhonov, Anna A. Voskresenskaya, Vitaly V. Kadyshev, Natella V. Sukhanova, Marina E. Minzhenkova, Nadezhda V. Shilova, Alla A. Latyshova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko

Genes (Basel) 2023 Nov; 14(11): 2041. Published online 2023 Nov 4. doi: 10.3390/genes14112041

PMCID:: PMC10671545

Abstract Article PDF–555K

Select item 104133094.

Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes

Erin A. Boese, Mallory R. Tollefson, Michael J. Schnieders, Benjamin W. Darbro, Wallace L.M. Alward, John H. Fingert

Curr Eye Res. Author manuscript; available in PMC 2023 Aug 10.

Published in final edited form as: Curr Eye Res. 2020 Jan; 45(1): 91–96. Published online 2019 Aug 14. doi: 10.1080/02713683.2019.1649704

PMCID:: PMC10413309

Abstract Article PDF–638K

Select item 104081645.

A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis

Yanping Yu, Hongyan Jia, Qian Ma, Ranran Zhang, Yonghong Jiao

BMC Ophthalmol. 2023; 23: 349. Published online 2023 Aug 8. doi: 10.1186/s12886-023-03054-5

PMCID:: PMC10408164

Abstract Article PDF–3.1M

Select item 103794906.

Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia

Itsuka Matsushita, Hiroto Izumi, Shinji Ueno, Takaaki Hayashi, Kaoru Fujinami, Kazushige Tsunoda, Takeshi Iwata, Yoshiaki Kiuchi, Hiroyuki Kondo

Genes (Basel) 2023 Jul; 14(7): 1483. Published online 2023 Jul 21. doi: 10.3390/genes14071483

PMCID:: PMC10379490

Abstract Article PDF–3.7M

Select item 99136717.

PAX6 Expression Patterns in the Adult Human Limbal Stem Cell Niche

Naresh Polisetti, Günther Schlunck, Thomas Reinhard

Cells. 2023 Feb; 12(3): 400. Published online 2023 Jan 23. doi: 10.3390/cells12030400

PMCID:: PMC9913671

Abstract Article PDF–12M

Select item 98639808.

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia

Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damian, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Minguez, Marta Corton

Int J Mol Sci. 2023 Jan; 24(2): 1562. Published online 2023 Jan 13. doi: 10.3390/ijms24021562

PMCID:: PMC9863980

Abstract Article PDF–993K

Select item 98231009.

Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene

Bernhard O. Boehm, Wolfgang Kratzer, Vikas Bansal

Eur J Hum Genet. 2023 Jan; 31(1): 89–96. Published online 2022 Oct 7. doi: 10.1038/s41431-022-01182-y

PMCID:: PMC9823100

Abstract Article PDF–902K

Select item 960652410.

PAX6 is frequently expressed in ependymal tumours and associated with prognostic relevant subgroups

Julian Tabasaran, Martin Schuhmann, Martin Ebinger, Jürgen Honegger, Mirjam Renovanz, Jens Schittenhelm

J Clin Pathol. 2022 Nov; 75(11): 759–765. Published online 2021 Jun 28. doi: 10.1136/jclinpath-2021-207526

PMCID:: PMC9606524

Abstract Article PDF–1.2M

Select item 922337311.

Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome

Tatyana A. Vasilyeva, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko

Int J Mol Sci. 2022 Jun; 23(12): 6690. Published online 2022 Jun 15. doi: 10.3390/ijms23126690

PMCID:: PMC9223373

Abstract Article PDF–265K

Select item 876135012.

Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities

Junyi Ouyang, Ziyan Cai, Yinjie Guo, Fen Nie, Mengdan Cao, Xuanchu Duan

BMC Ophthalmol. 2022; 22: 28. Published online 2022 Jan 16. doi: 10.1186/s12886-022-02256-7

PMCID:: PMC8761350

Abstract Article PDF–1.6M

Select item 874449313.

Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features

Kristen L. Buehne, Sarah Hart, Bradley Williams, Jennifer L. Cohen

Cold Spring Harb Mol Case Stud. 2022 Jan; 8(1): a006149. doi: 10.1101/mcs.a006149

PMCID:: PMC8744493

Abstract Article PDF–1.6M

Select item 849139414.

A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

Tianwei Qian, Chong Chen, Caihua Li, Qiaoyun Gong, Kun Liu, Gao Wang, Isabelle Schrauwen, Xun Xu

BMC Ophthalmol. 2021; 21: 353. Published online 2021 Oct 5. doi: 10.1186/s12886-021-02120-0

PMCID:: PMC8491394

Abstract Article PDF–1.3M

Select item 841006015.

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Vivienne Kit, Dulce Lima Cunha, Ahmed M. Hagag, Mariya Moosajee

JCI Insight. 2021 Jul 22; 6(14): e148406. Published online 2021 Jul 22. doi: 10.1172/jci.insight.148406

PMCID:: PMC8410060

Abstract Article PDF–918K

Select item 838391116.

Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement

Yi Jiang, Shiqiang Li, Xueshan Xiao, Wenmin Sun, Qingjiong Zhang

Invest Ophthalmol Vis Sci. 2021 Aug; 62(10): 23. Published online 2021 Aug 20. doi: 10.1167/iovs.62.10.23

PMCID:: PMC8383911

Abstract Article PDF–8.8M

Select item 815127217.

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

Maria Nieves-Moreno, Susana Noval, Jesus Peralta, María Palomares-Bralo, Angela del Pozo, Sixto Garcia-Miñaur, Fernando Santos-Simarro, Elena Vallespin

Genes (Basel) 2021 May; 12(5): 707. Published online 2021 May 9. doi: 10.3390/genes12050707