Publications:

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Genetic heterogeneity of primary open-angle glaucoma in Pakistan.

Saudi Journal Of Biological Sciences

Yaqoob Shahani, Muhammad M; Memon, Samreen S; Ahmed Sheikh, Shakeel S; Bano, Umbreen U; Shaikh, Pashmina P; Gul Memon, Samina S; Begum Shahani, Shazia S; Din Ujjan, Ikram I; Kumar Narsani, Ashok A; Muhammad Waryah, Ali A

Publication Date: 2023-01

Variant appearance in text: MYOC: 144G>T; Gln48His

PubMed Link: 36387029

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.

Frontiers In Genetics

Zhou, Biting B; Lin, Xiaojia X; Li, Zhong Z; Yao, Yihua Y; Yang, Juhua J; Zhu, Yihua Y

Publication Date: 2022

Variant appearance in text: MYOC: Q48H

PubMed Link: 36267417

Variant Present in the following documents:

• Main text
• Table2.xlsx, sheet 1
• fgene-13-1019208.pdf

View BVdb publication page

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Rare eye diseases in India: A concise review of genes and genetics.

Indian Journal Of Ophthalmology

Jeyabalan, Nallathambi N; Ghosh, Anuprita A; Mathias, Grace P GP; Ghosh, Arkasubhra A

Publication Date: 2022-07

Variant appearance in text: MYOC: Gln48His

PubMed Link: 35791102

Variant Present in the following documents:

• Main text
• IJO-70-2232.pdf

View BVdb publication page

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Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?

Journal Of Clinical Medicine

Belamkar, Aditya A; Harris, Alon A; Oddone, Francesco F; Verticchio Vercellin, Alice A; Fabczak-Kubicka, Anna A; Siesky, Brent B

Publication Date: 2022-04-28

Variant appearance in text: MYOC: 144G>T; Gln48His

PubMed Link: 35566612

Variant Present in the following documents:

• jcm-11-02486.pdf

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: MYOC: 144G>T; Gln48His; rs74315339

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: MYOC: 144G>T; Gln48His; rs74315339

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma.

Indian Journal Of Ophthalmology

Gupta, Viney V; Somarajan, Bindu I BI; Kaur, Gagandeep G; Gupta, Shikha S; Singh, Renu R; Pradhan, Dibyabhaba D; Singh, Harpreet H; Kaur, Punit P; Sharma, Anshul A; Chawla, Bindia B; Pahuja, Anisha A; Ramachandran, Rajesh R; Sharma, Arundhati A

Publication Date: 2021-10

Variant appearance in text: MYOC: Gln48His

PubMed Link: 34571620

Variant Present in the following documents:

• IJO-69-2710.pdf

View BVdb publication page

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Updates on the molecular genetics of primary congenital glaucoma (Review).

Experimental And Therapeutic Medicine

Ling, Chen C; Zhang, Dingding D; Zhang, Jing J; Sun, Huanxin H; Du, Qiu Q; Li, Xuefei X

Publication Date: 2020-08

Variant appearance in text: MYOC: Gln48His

PubMed Link: 32742340

Variant Present in the following documents:

• Main text
• etm-20-02-0968.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: MYOC: Q48H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: rs74315339

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: MYOC: 144G>T; Gln48His

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: MYOC: 144G>T; rs74315339

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: MYOC: 144G>T; Gln48His; rs74315339

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: MYOC: Q48H; rs74315339

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Research progress on human genes involved in the pathogenesis of glaucoma (Review).

Molecular Medicine Reports

Wang, Hong-Wei HW; Sun, Peng P; Chen, Yao Y; Jiang, Li-Ping LP; Wu, Hui-Ping HP; Zhang, Wen W; Gao, Feng F

Publication Date: 2018-07

Variant appearance in text: MYOC: Gln48His

PubMed Link: 29845210

Variant Present in the following documents:

• Main text
• mmr-18-01-0656.pdf

View BVdb publication page

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Understanding mutational effects in digenic diseases.

Nucleic Acids Research

Gazzo, Andrea A; Raimondi, Daniele D; Daneels, Dorien D; Moreau, Yves Y; Smits, Guillaume G; Van Dooren, Sonia S; Lenaerts, Tom T

Publication Date: 2017-09-06

Variant appearance in text: MYOC: Q48H

PubMed Link: 28911095

Variant Present in the following documents:

• Main text
• gkx557.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: GLC1A: Q48H

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MYOC: Q48H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.

Plos One

Medina-Trillo, Cristina C; Sánchez-Sánchez, Francisco F; Aroca-Aguilar, José-Daniel JD; Ferre-Fernández, Jesús-José JJ; Morales, Laura L; Méndez-Hernández, Carmen-Dora CD; Blanco-Kelly, Fiona F; Ayuso, Carmen C; García-Feijoo, Julián J; Escribano, Julio J

Publication Date: 2015

Variant appearance in text: MYOC: Gln48His

PubMed Link: 25786029

Variant Present in the following documents:

• pone.0119272.pdf

View BVdb publication page

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A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.

Molecular Vision

Cai, Su-ping SP; Muhemaiti, Paerheti P; Yin, Yan Y; Cheng, Hongbo H; Di Ya, A A; Keyimu, Maliyamu M; Cao, Xu X; Fan, Ning N; Jiang, Liqiong L; Yan, Naihong N; Zhou, Xiaomin X; Wang, Yun Y; Liu, Xuyang X

Publication Date: 2012

Variant appearance in text: MYOC: Gln48His

PubMed Link: 22876119

Variant Present in the following documents:

• Main text
• mv-v18-1944.pdf

View BVdb publication page

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Comprehensive analysis of myocilin variants in east Indian POAG patients.

Molecular Vision

Banerjee, Deblina D; Bhattacharjee, Ashima A; Ponda, Archisman A; Sen, Abhijit A; Ray, Kunal K

Publication Date: 2012

Variant appearance in text: MYOC: 144G>T; Gln48His

PubMed Link: 22736945

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.

Molecular Vision

Rose, Rajiv R; Balakrishnan, Anandan A; Muthusamy, Karthikeyan K; Arumugam, Paramasivam P; Shanmugam, Sambandham S; Gopalswamy, Jayaraman J

Publication Date: 2011

Variant appearance in text: N/A

PubMed Link: 22194650

Variant Present in the following documents:

View BVdb publication page

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Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Molecular Vision

Kim, Hee-Jung HJ; Suh, Wool W; Park, Sung Chul SC; Kim, Chan Yun CY; Park, Ki Ho KH; Kook, Michael S MS; Kim, Yong Yeon YY; Kim, Chang-Sik CS; Park, Chan Kee CK; Ki, Chang-Seok CS; Kee, Changwon C

Publication Date: 2011

Variant appearance in text: N/A

PubMed Link: 21850185

Variant Present in the following documents:

View BVdb publication page

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Complex genetic mechanisms in glaucoma: an overview.

Indian Journal Of Ophthalmology

Rao, Kollu N KN; Nagireddy, Srujana S; Chakrabarti, Subhabrata S

Publication Date: 2011-01

Variant appearance in text: MYOC: Gln48His

PubMed Link: 21150032

Variant Present in the following documents:

• Main text
• IJO-59-31.pdf

View BVdb publication page

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MYOC and FOXC1 gene analysis in primary congenital glaucoma.

Molecular Vision

Tanwar, Mukesh M; Kumar, Manoj M; Dada, Tanuj T; Sihota, Ramanjit R; Dada, Rima R

Publication Date: 2010-10-08

Variant appearance in text: MYOC: Gln48His

PubMed Link: 21031026

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetics of primary open-angle glaucoma: a review.

Experimental Eye Research

Allingham, R Rand RR; Liu, Yutao Y; Rhee, Douglas J DJ

Publication Date: 2009-04

Variant appearance in text: MYOC: Gln48His

PubMed Link: 19061886

Variant Present in the following documents:

• Main text

View BVdb publication page

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Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

Molecular Vision

Xie, Xiaobing X; Zhou, Xin X; Qu, Xiying X; Wen, Jing J; Tian, Yanli Y; Zheng, Fang F

Publication Date: 2008-09-05

Variant appearance in text: MYOC: Gln48His

PubMed Link: 18776955

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Molecular Vision

Kumar, Arun A; Basavaraj, Manjunath G MG; Gupta, Santosh K SK; Qamar, Imteyaz I; Ali, Abdullah Mahmood AM; Bajaj, Vineeta V; Ramesh, T K TK; Prakash, D Ravi DR; Shetty, Jyoti S JS; Dorairaj, Syril K SK

Publication Date: 2007-04-30

Variant appearance in text: MYOC: Gln48His

PubMed Link: 17563717

Variant Present in the following documents:

• Main text
• mv-v13-667.pdf

View BVdb publication page

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