Publications:

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A narrative review of precision medicine in neonatal sepsis: genetic and epigenetic factors associated with disease susceptibility.

Translational Pediatrics

Dai, Wenjuan W; Zhou, Wenhao W

Publication Date: 2023-04-29

Variant appearance in text: rs4358188

PubMed Link: 37181024

Variant Present in the following documents:

• Main text
• tp-12-04-749.pdf

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs4358188

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs4358188

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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A Polymorphism of Bactericidal/Permeability-Increasing Protein Affects Its Neutralization Efficiency towards Lipopolysaccharide.

International Journal Of Molecular Sciences

Ederer, Katharina U KU; Holzinger, Jonas M JM; Maier, Katharina T KT; Zeller, Lisa L; Werner, Maren M; Toelge, Martina M; Gessner, André A; Bülow, Sigrid S

Publication Date: 2022-01-25

Variant appearance in text: rs4358188

PubMed Link: 35163248

Variant Present in the following documents:

• Main text
• ijms-23-01324.pdf

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A Polymorphism of Bactericidal/Permeability-Increasing Protein Affects Its Neutralization Efficiency towards Lipopolysaccharide.

International Journal Of Molecular Sciences

Ederer, Katharina U KU; Holzinger, Jonas M JM; Maier, Katharina T KT; Zeller, Lisa L; Werner, Maren M; Toelge, Martina M; Gessner, André A; Bülow, Sigrid S

Publication Date: 2022-01-25

Variant appearance in text: rs4358188

PubMed Link: 35163248

Variant Present in the following documents:

• Main text
• ijms-23-01324.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs4358188

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Association of Gene Polymorphism of Bactericidal Permeability Increasing Protein Rs4358188, Cluster of Differentiation 14 Rs2569190, Interleukin 1β Rs1143643 and Matrix Metalloproteinase-16 Rs2664349 with Neonatal Sepsis.

Open Access Macedonian Journal Of Medical Sciences

Mustarim, Mustarim M; Yanwirasti, Yanwirasti Y; Jamsari, Jamsari J; Rukmono, Rukmono R; Nindrea, Ricvan Dana RD

Publication Date: 2019-09-15

Variant appearance in text: rs4358188

PubMed Link: 31844428

Variant Present in the following documents:

• Main text
• OAMJMS-7-2728.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs4358188

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs4358188

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Genetic polymorphisms and the development of invasive bacterial infections in children.

International Journal Of Immunopathology And Pharmacology

Esposito, Susanna S; Bosis, Samantha S; Orenti, Annalisa A; Spena, Silvia S; Montinaro, Valentina V; Bianchini, Sonia S; Zampiero, Alberto A; Principi, Nicola N

Publication Date: 2016-03

Variant appearance in text: rs4358188

PubMed Link: 26684632

Variant Present in the following documents:

• Main text

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: rs4358188

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Bactericidal permeability increasing protein gene polymorphism is associated with inflammatory bowel diseases in the Turkish population.

Saudi Journal Of Gastroenterology : Official Journal Of The Saudi Gastroenterology Association

Can, Güray G; Akın, Hakan H; Özdemir, Filiz T FT; Can, Hatice H; Yılmaz, Bülent B; Eren, Fatih F; Atuğ, Özlen Ö; Ünsal, Belkıs B; Hamzaoğlu, Hülya O HO

Publication Date: 2015

Variant appearance in text: rs4358188

PubMed Link: 26228368

Variant Present in the following documents:

• Main text
• SJG-21-239.pdf

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Genetic polymorphisms and sepsis in premature neonates.

Plos One

Esposito, Susanna S; Zampiero, Alberto A; Pugni, Lorenza L; Tabano, Silvia S; Pelucchi, Claudio C; Ghirardi, Beatrice B; Terranova, Leonardo L; Miozzo, Monica M; Mosca, Fabio F; Principi, Nicola N

Publication Date: 2014

Variant appearance in text: rs4358188

PubMed Link: 25000179

Variant Present in the following documents:

• pone.0101248.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs4358188

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Candidate gene linkage approach to identify DNA variants that predispose to preterm birth.

Pediatric Research

Bream, Elise N A EN; Leppellere, Cara R CR; Cooper, Margaret E ME; Dagle, John M JM; Merrill, David C DC; Christensen, Kaare K; Simhan, Hyagriv N HN; Fong, Chin-To CT; Hallman, Mikko M; Muglia, Louis J LJ; Marazita, Mary L ML; Murray, Jeffrey C JC

Publication Date: 2013-02

Variant appearance in text: rs4358188

PubMed Link: 23168575

Variant Present in the following documents:

• Main text
• nihms447458.pdf

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Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.

Pediatric Research

Abu-Maziad, Asmaa A; Schaa, Kendra K; Bell, Edward F EF; Dagle, John M JM; Cooper, Margaret M; Marazita, Mary L ML; Murray, Jeffrey C JC

Publication Date: 2010-10

Variant appearance in text: rs4358188

PubMed Link: 20463618

Variant Present in the following documents:

• Main text

View BVdb publication page

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