PubMed for id: 5332

Year	Number of Results
1988	1
1990	1
1992	1
1995	2
1996	1
1997	1
1998	1
1999	1
2000	2
2001	2
2002	2
2003	1
2004	1
2005	1
2006	4
2009	4
2010	9
2011	1
2012	2
2013	3
2014	4
2015	3
2016	3
2017	3
2018	1
2019	2
2020	5
2021	5
2022	2
2023	2
2024	0

1

Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.

Kanai SM, Heffner C, Cox TC, Cunningham ML, Perez FA, Bauer AM, Reigan P, Carter C, Murray SA, Clouthier DE. Kanai SM, et al. Dis Model Mech. 2022 Apr 1;15(4):dmm049320. doi: 10.1242/dmm.049320. Epub 2022 Apr 29. Dis Model Mech. 2022. PMID: 35284927 Free PMC article.

2

Uveal melanoma-associated mutations in PLCβ4 are constitutively activating and promote melanocyte proliferation and tumorigenesis.

Phan HTN, Kim NH, Wei W, Tall GG, Smrcka AV. Phan HTN, et al. Sci Signal. 2021 Dec 14;14(713):eabj4243. doi: 10.1126/scisignal.abj4243. Epub 2021 Dec 14. Sci Signal. 2021. PMID: 34905385 Free PMC article.

3

A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.

Nabil A, El Shafei S, El Shakankiri NM, Habib A, Morsy H, Maddirevula S, Alkuraya FS. Nabil A, et al. Eur J Med Genet. 2020 Jun;63(6):103917. doi: 10.1016/j.ejmg.2020.103917. Epub 2020 Mar 19. Eur J Med Genet. 2020. PMID: 32201334

4

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Romanelli Tavares VL, et al. Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101. Am J Med Genet A. 2017. PMID: 28328130

5

PLCB4 copy gain and PLCß4 overexpression in primary gastrointestinal stromal tumors: Integrative characterization of a lipid-catabolizing enzyme associated with worse disease-free survival.

Li CF, Liu TT, Chuang IC, Chen YY, Fang FM, Chan TC, Li WS, Huang HY. Li CF, et al. Oncotarget. 2017 Mar 21;8(12):19997-20010. doi: 10.18632/oncotarget.15306. Oncotarget. 2017. PMID: 28212550 Free PMC article.

6

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

Leoni C, Gordon CT, Della Marca G, Giorgio V, Onesimo R, Perrino F, Cianfoni A, Cerchiari A, Amiel J, Zampino G. Leoni C, et al. Am J Med Genet A. 2016 Jun;170(6):1471-8. doi: 10.1002/ajmg.a.37625. Epub 2016 Mar 23. Am J Med Genet A. 2016. PMID: 27007857

7

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

Johansson P, Aoude LG, Wadt K, Glasson WJ, Warrier SK, Hewitt AW, Kiilgaard JF, Heegaard S, Isaacs T, Franchina M, Ingvar C, Vermeulen T, Whitehead KJ, Schmidt CW, Palmer JM, Symmons J, Gerdes AM, Jönsson G, Hayward NK. Johansson P, et al. Oncotarget. 2016 Jan 26;7(4):4624-31. doi: 10.18632/oncotarget.6614. Oncotarget. 2016. PMID: 26683228 Free PMC article.

8

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.

Kido Y, Gordon CT, Sakazume S, Ben Bdira E, Dattani M, Wilson LC, Lyonnet S, Murakami N, Cunningham ML, Amiel J, Nagai T. Kido Y, et al. Am J Med Genet A. 2013 Sep;161A(9):2339-46. doi: 10.1002/ajmg.a.36066. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913798

9

cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C beta 4 (PLCB4).

Alvarez RA, Ghalayini AJ, Xu P, Hardcastle A, Bhattacharya S, Rao PN, Pettenati MJ, Anderson RE, Baehr W. Alvarez RA, et al. Genomics. 1995 Sep 1;29(1):53-61. doi: 10.1006/geno.1995.1214. Genomics. 1995. PMID: 8530101

10

The Polymorphism at PLCB4 Promoter (rs6086746) Changes the Binding Affinity of RUNX2 and Affects Osteoporosis Susceptibility: An Analysis of Bioinformatics-Based Case-Control Study and Functional Validation.

Tsai DJ, Fang WH, Wu LW, Tai MC, Kao CC, Huang SM, Chen WT, Hsiao PJ, Chiu CC, Su W, Wu CC, Su SL. Tsai DJ, et al. Front Endocrinol (Lausanne). 2021 Nov 25;12:730686. doi: 10.3389/fendo.2021.730686. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34899595 Free PMC article.

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