Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: IL4R: 2356T>C; Ser786Pro; rs1805014

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs1805014

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.

Plos One

Mkaouar, Rahma R; Riahi, Zied Z; Charfeddine, Cherine C; Chelly, Imen I; Boudabbous, Hela H; Dallali, Hamza H; Bonnet, Crystel C; Hechmi, Meriem M; Bekri, Soumeya S; Zitouna, Nadia N; Zekri, Lotfi L; Tounsi, Amel A; Kefi, Rym R; Marrakchi, Jihene J; Messaoud, Olfa O; Kraoua, Ichraf I; Maalej, Sonia S; Turki Ben Youssef, Ilhem I; Ben Hmid, Ahlem A; Giraudet, Fabrice F; Bouchoucha, Sami S; Tebib, Neji N; Besbes, Ghazi G; Petit, Christine C; Mrad, Ridha R; Abdelhak, Sonia S; Trabelsi, Mediha M

Publication Date: 2021

Variant appearance in text: IL4R: S786P; rs1805014

PubMed Link: 34614013

Variant Present in the following documents:

• pone.0258202.s003.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: IL4R: S786P; rs1805014

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: IL4R: S786P; rs1805014

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 11

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: rs1805014

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: IL4R: S786P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Genetic determinants of UV-susceptibility in non-melanoma skin cancer.

Plos One

Welsh, Marleen M MM; Karagas, Margaret R MR; Kuriger, Jacquelyn K JK; Houseman, Andres A; Spencer, Steven K SK; Perry, Ann E AE; Nelson, Heather H HH

Publication Date: 2011

Variant appearance in text: IL4R: Ser786Pro

PubMed Link: 21760883

Variant Present in the following documents:

• pone.0020019.pdf

View BVdb publication page

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The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

Genes And Immunity

Julier, C C; Akolkar, B B; Concannon, P P; Morahan, G G; Nierras, C C; Pugliese, A A; ,

Publication Date: 2009-12

Variant appearance in text: rs1805014

PubMed Link: 19956109

Variant Present in the following documents:

• Main text

View BVdb publication page

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Overview of the Rapid Response data.

Genes And Immunity

Brown, W M WM; Pierce, J J JJ; Hilner, J E JE; Perdue, L H LH; Lohman, K K; Lu, L L; de Bakker, P I W PI; Irenze, K K; Ziaugra, L L; Mirel, D B DB; ,

Publication Date: 2009-12

Variant appearance in text: rs1805014

PubMed Link: 19956101

Variant Present in the following documents:

• Main text

View BVdb publication page

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No evidence of association or interaction between the IL4RA, IL4, and IL13 genes in type 1 diabetes.

American Journal Of Human Genetics

Maier, Lisa M LM; Chapman, Juliet J; Howson, Joanna M M JM; Clayton, David G DG; Pask, Rebecca R; Strachan, David P DP; McArdle, Wendy L WL; Twells, Rebecca C J RC; Todd, John A JA

Publication Date: 2005-03

Variant appearance in text: rs1805014

PubMed Link: 15660293

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association studies for asthma and atopic diseases: a comprehensive review of the literature.

Respiratory Research

Hoffjan, Sabine S; Nicolae, Dan D; Ober, Carole C

Publication Date: 2003

Variant appearance in text: IL4R: Ser786Pro

PubMed Link: 14748924

Variant Present in the following documents:

• 1465-9921-4-14.pdf

View BVdb publication page

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