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Select item 104576891.

IHGA: An interactive web server for large-scale and comprehensive discovery of genes of interest in hepatocellular carcinoma

Qiangnu Zhang, Weibin Hu, Lingfeng Xiong, Jin Wen, Teng Wei, Lesen Yan, Quan Liu, Siqi Zhu, Yu Bai, Yuandi Zeng, Zexin Yin, Jilin Yang, Wenjian Zhang, Meilong Wu, Yusen Zhang, Gongze Peng, Shiyun Bao, Liping Liu

Comput Struct Biotechnol J. 2023; 21: 3987–3998. Published online 2023 Aug 6. doi: 10.1016/j.csbj.2023.08.003

PMCID:: PMC10457689

Article PDF–13M

Select item 74447162.

Iris Hypoplasia as the Presenting Sign of Retinoblastoma in a Child With a 13q Deletion

Sona Shah, Yaran Koban, Bao han A. Le, Mercy Bechtold, Emily Zolfaghari, Jonathan W. Kim, Jesse L. Berry

J Pediatr Ophthalmol Strabismus. Author manuscript; available in PMC 2020 Aug 24.

Published in final edited form as: J Pediatr Ophthalmol Strabismus. 2018 Apr 23; 55: e10–e13. Published online 2018 Apr 23. doi: 10.3928/01913913-20180215-02

PMCID:: PMC7444716

Article PDF–378K

Select item 47855203.

A novel PITX2 mutation causing iris hypoplasia

Masashi Kimura, Yoshihito Tokita, Junichiro Machida, Akio Shibata, Tadashi Tatematsu, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Hitoshi Miyachi, Kazuo Shimozato, Naomichi Matsumoto, Mitsuko Nakashima

Hum Genome Var. 2014; 1: 14005. Published online 2014 Jul 31. doi: 10.1038/hgv.2014.5

PMCID:: PMC4785520

Article PDF–669K

Select item 30359954.

Oral priming with Salmonella Typhi vaccine strain CVD 909 followed by parenteral boost with the S. Typhi Vi capsular polysaccharide vaccine induces CD27⁺ IgD⁻S. Typhi specific IgA and IgG B memory cells in humans

Rezwanul Wahid, Marcela F. Pasetti, Milton Maciel, Jr, Jakub K. Simon, Carol O. Tacket, Myron M. Levine, Marcelo B Sztein

Clin Immunol. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Clin Immunol. 2011 Feb; 138(2): 187–200. Published online 2010 Dec 10. doi: 10.1016/j.clim.2010.11.006

PMCID:: PMC3035995

Article PDF–1.8M

Select item 12885555.

Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma

Ordan J. Lehmann, Neil D. Ebenezer, Tim Jordan, Margaret Fox, Louise Ocaka, Annette Payne, Bart P. Leroy, Brian J. Clark, Roger A. Hitchings, Sue Povey, Peng T. Khaw, Shomi S. Bhattacharya

Am J Hum Genet. 2000 Nov; 67(5): 1129–1135. Published online 2000 Sep 27. doi: 10.1016/s0002-9297(07)62943-7

PMCID:: PMC1288555

Article PDF–1.0M

Select item 1244856.

Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform

Sanjaya Singh, Rajnikant Mishra, Nelson A. Arango, Jian Min Deng, Richard R. Behringer, Grady F. Saunders

Proc Natl Acad Sci U S A. 2002 May 14; 99(10): 6812–6815. Published online 2002 Apr 30. doi: 10.1073/pnas.102691299

PMCID:: PMC124485

Article PDF–388K

Select item 110624067.

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

Alejandra Daruich, Melinda Duncan, Matthieu P. Robert, Neil Lagali, Elena V. Semina, Daniel Aberdam, Stefano Ferrari, Vito Romano, Cyril Burin des Roziers, Rabia Benkortebi, Nathalie De Vergnes, Michel Polak, Frederic Chiambaretta, Ken K. Nischal, Francine Behar-Cohen, Sophie Valleix, Dominique Bremond-Gignac

Prog Retin Eye Res. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Prog Retin Eye Res. 2023 Jul; 95: 101133. Published online 2022 Oct 22. doi: 10.1016/j.preteyeres.2022.101133

PMCID:: PMC11062406

Article PDF–2.2M

Select item 109975528.

Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion

Ibrahim Serhat Karakus, Mehmet Cihangir Catak, Alexandra Frohne, Feyza Bayram Catak, Melek Yorgun Altunbas, Royala Babayeva, Sevgi Kostel Bal, Sevgi Bilgic Eltan, Ezgi Yalcin Gungoren, Fehim Esen, Itir Ebru Zemheri, Elif Karakoc-Aydiner, Ahmet Ozen, Suar Caki-Kilic, Michael J. Kraakman, Kaan Boztug, Safa Baris

J Clin Immunol. 2024; 44(4): 94. Published online 2024 Apr 5. doi: 10.1007/s10875-024-01682-0

PMCID:: PMC10997552

Article PDF–4.7M

Select item 100817309.

Cornea plana-like phenotype with peripheral scleralization associated with a pathogenic variant of PITX2: a case report

Elena Franco, Hannah L Scanga, Ken K Nischal

Cornea. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Cornea. 2023 May 1; 42(5): 639–640. Published online 2023 Jan 19. doi: 10.1097/ICO.0000000000003208

PMCID:: PMC10081730

Article PDF–243K

Select item 990049310.

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani, Salman Kirmani, Fizza Akbar, Shahnaz Ibrahim, Bushra Afroze, Mohammad Doosti, Farah Ashrafzadeh, Meisam Babaei, Stephanie Efthymiou, Marilena Christoforou, Tipu Sultan, Roger L. Ladda, Heather M. McLaughlin, Rebecca Truty, Sonal Mahida, Julie S. Cohen, Kristin Baranano, Fatima Y. Ismail, Millan S. Patel, Anna Lehman, Andrew C. Edmondson, Amanda Nagy, Melissa A. Walker, Saadet Mercimek-Andrews, Yuta Maki, Rani Sachdev, Rebecca Macintosh, Elizabeth E. Palmer, Grazia M. S. Mancini, Tahsin Stefan Barakat, Robert Steinfeld, Christina T. Rüsch, Georg M. Stettner, Matias Wagner, Saskia B. Wortmann, Usha Kini, Angela F. Brady, Karen L. Stals, Naila Ismayilova, Sian Ellard, Danilo Bernardo, Kimberly Nugent, Scott D. McLean, Stylianos E. Antonarakis, Henry Houlden, Taroh Kinoshita, Philippe M. Campeau, Yoshiko Murakami

Genet Med. Author manuscript; available in PMC 2023 Feb 6.

Published in final edited form as: Genet Med. 2021 Oct; 23(10): 1873–1881. Published online 2021 Jun 10. doi: 10.1038/s41436-021-01215-9

PMCID:: PMC9900493

Article PDF–1.5M

Select item 925378211.

Ethanolamine‐phosphate on the second mannose is a preferential bridge for some GPI‐anchored proteins

Mizuki Ishida, Yuta Maki, Akinori Ninomiya, Yoko Takada, Philippe Campeau, Taroh Kinoshita, Yoshiko Murakami

EMBO Rep. 2022 Jul; 23(7): e54352. Published online 2022 May 23. doi: 10.15252/embr.202154352

PMCID:: PMC9253782

Article PDF–1.9M

Select item 916681012.

Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy

Ryoko Kuwayama, Keiichiro Suzuki, Jun Nakamura, Emi Aizawa, Yoshichika Yoshioka, Masahito Ikawa, Shin Nabatame, Ken-ichi Inoue, Yoshiari Shimmyo, Keiichi Ozono, Taroh Kinoshita, Yoshiko Murakami

Nat Commun. 2022; 13: 3107. Published online 2022 Jun 3. doi: 10.1038/s41467-022-30847-x

PMCID:: PMC9166810

Article PDF–5.1M

Select item 894907613.

Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1

Mariya R. Ahmed, Saumil Sethna, Laura A. Krueger, Michael B. Yang, Robert B. Hufnagel

Genes (Basel) 2022 Mar; 13(3): 411. Published online 2022 Feb 24. doi: 10.3390/genes13030411

PMCID:: PMC8949076

Article PDF–26M

Select item 836984014.

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

Linda M Reis, Elena A Sorokina, Lubica Dudakova, Jana Moravikova, Pavlina Skalicka, Frantisek Malinka, Sarah E Seese, Samuel Thompson, Tanya Bardakjian, Jenina Capasso, William Allen, Tom Glaser, Alex V Levin, Adele Schneider, Ayesha Khan, Petra Liskova, Elena V Semina

Hum Mol Genet. 2021 Sep 1; 30(17): 1591–1606. Published online 2021 May 27. doi: 10.1093/hmg/ddab142

PMCID:: PMC8369840

Article PDF–1.7M

Select item 742728815.

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

Andrey V. Marakhonov, Anna A. Voskresenskaya, Maria Jose Ballesta, Fedor A. Konovalov, Tatyana A. Vasilyeva, Fiona Blanco-Kelly, Nadezhda A. Pozdeyeva, Vitaly V. Kadyshev, Vanesa López-González, Encarna Guillen, Carmen Ayuso, Rena A. Zinchenko, Marta Corton

Orphanet J Rare Dis. 2020; 15: 207. Published online 2020 Aug 13. doi: 10.1186/s13023-020-01484-8

PMCID:: PMC7427288

Article PDF–2.4M

Select item 711858516.

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, Marcello Niceta, Giuseppe Zampino, Christophe Philippe, Sébastien Moutton, Maha S. Zaki, Kiely N. James, Damir Musaev, Weiyi Mu, Kristin Baranano, Jessica R. Nance, Jill A. Rosenfeld, Nancy Braverman, Andrea Ciolfi, Francisca Millan, Richard E. Person, Ange-Line Bruel, Christel Thauvin-Robinet, Athina Ververi, Catherine DeVile, Alison Male, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Shazia Maqbool, Fatima Rahman, Nissan V. Baratang, Justine Rousseau, Anik St-Denis, Matthew J. Elrick, Irina Anselm, Lance H. Rodan, Marco Tartaglia, Joseph Gleeson, Taroh Kinoshita, Philippe M. Campeau

Am J Hum Genet. 2020 Apr 2; 106(4): 484–495. Published online 2020 Mar 26. doi: 10.1016/j.ajhg.2020.03.001

PMCID:: PMC7118585

Article PDF–2.8M

Select item 709333417.

Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia

Bing You, Xiaohui Zhang, Ke Xu, Yue Xie, Hanwen Ye, Yang Li

Mol Vis. 2020; 26: 226–234. Published online 2020 Mar 26.

PMCID:: PMC7093334

Article PDF–2.2M

Select item 704838618.

The Homeobox Gene Six3 Is a Potential Regulator of Anterior Segment Formation in the Chick Eye

Yi-Wen Hsieh, Xiang-Mei Zhang, Eddie Lin, Guillermo Oliver, Xian-Jie Yang

Dev Biol. Author manuscript; available in PMC 2020 Feb 28.

Published in final edited form as: Dev Biol. 2002 Aug 15; 248(2): 265–280. doi: 10.1006/dbio.2002.0732

PMCID:: PMC7048386

Article PDF–2.5M

Select item 700480419.

A C1976Y missense mutation in the mouse Ip3r1 gene leads to short-term mydriasis and unfolded protein response in the iris constrictor muscles

Bing Chen, Chong-Yang Qi, Li Chen, Meng-Jun Dai, Ya-You Miao, Rui Chen, Wan-E Wei, Shun Yang, Hong-Ling Wang, Xiao-Ge Duan, Min-Wei Gong, Yi Wang, Zheng-Feng Xue

Exp Anim. 2020; 69(1): 45–53. Published online 2019 Aug 8. doi: 10.1538/expanim.19-0007

PMCID:: PMC7004804

Article PDF–3.3M

Select item 700127120.

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

Leigh C. Carmody, Hannah Blau, Daniel Danis, Xingman A. Zhang, Jean-Philippe Gourdine, Nicole Vasilevsky, Peter Krawitz, Miles D. Thompson, Peter N. Robinson

Orphanet J Rare Dis. 2020; 15: 40. Published online 2020 Feb 4. doi: 10.1186/s13023-020-1313-0

PMCID:: PMC7001271

Article PDF–2.3M

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