Extended genetic analysis of <i>BTNL2</i> in sarcoidosis

Li, Y.; Pabst, Stefan; Lokhande, Smita; Grohé, Christian; Wollnik, Bernd

doi:10.1111/j.1399-0039.2008.01180.x

Cited by 14 publications

(7 citation statements)

References 9 publications

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“…If BTNL2 is a negative regulator of T cell function, its truncation would be consistent with the overactivation of CD4 + T cells and macrophages that characterises sarcoidosis. The increased disease risk conferred by rs2076530 is independent of HLA genes located nearby and has been confirmed by several groups [25,26]. Other studies have linked several polymorphisms in BTNL2 to an increased risk for ulcerative colitis, and there is also a weak association with psoriasis [27][28][29][30].…”

Section: Immunological Functions Of Human Btn and Btnl Moleculesmentioning

confidence: 95%

Butyrophilins: an emerging family of immune regulators

Abeler-Dörner

Swamy

Williams

et al. 2012

Trends in Immunology

120

115

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Section: Immunological Functions Of Human Btn and Btnl Moleculesmentioning

confidence: 95%

Butyrophilins: an emerging family of immune regulators

Abeler-Dörner

Swamy

Williams

et al. 2012

Trends in Immunology

120

115

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“…The resulting products were sequenced using the chain termination method (36). qPCR was performed using the taqman assay from Integrated DNA Technologies, and the results were analyzed using the ΔΔCt-method as previously described (37).…”

Section: Breakpoint Pcr and Qpcr Analysismentioning

confidence: 99%

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Beleggia¹,

Li²,

Fan³

et al. 2015

Human Molecular Genetics

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Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is characterized by microcornea with increased axial length, coloboma of the iris and of the optic disc, and severe myopia. We performed whole-exome sequencing (WES) in two affected individuals from the 2p23-p16-linked MACOM family, which includes 13 affected individuals in 3 generations. As no shared novel variation was found on the linked haplotype, we performed copy number variation (CNV) analysis by comparing the coverage of all exons in the WES data sets of the 2 patients with the coverage of 26 control exomes. We identified a heterozygous deletion predicted to span 22 kb including exons 14-17 of CRIM1 (cysteine-rich transmembrane bone morphogenetic protein (BMP) regulator 1). Quantitative PCR (qPCR) analysis confirmed the deletion, which was present in 11 affected individuals. Split-read analysis of WES data followed by breakpoint PCR and Sanger sequencing determined both breakpoints flanked by a 4-bp microhomology (CTTG). In the mouse, Crim1 is a growth-factor-binding protein with pleiotropic roles in the development of multiple organs, including the eye. To investigate the role of Crim1 during eye development in mice, we crossed a Crim1(flox) mouse line with the Ap2α-cre mouse line, which expresses Cre in the head surface ectoderm. Strikingly, we observed alterations of eye development in homozygous mice leading to severe anatomical and morphological changes overlapping with the anomalies observed in MACOM patients. Taken together, these findings identify CRIM1 as the causative gene for MACOM syndrome and emphasize the importance of CRIM1 in eye development.

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“…In addition to HLA genes, there are other genes that appear as a strong factors for sarcoidosis, such as annexin A11 55,56 as well as other more controversial BTNL2 57,58 .…”

Section: Resolution Fibrosismentioning

confidence: 99%

In the Eye of the Beholder: Does the Master See the SameSpots as the Novice?

et al. 2010

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Historically, the use of two-dimensional electrophoresis (2-DE) in quantitative proteomics has been hampered by significant technical variance. Over the past decade, a range of technological leaps have reduced the overall variance of 2-DE, thus turning the technology into a robust platform for quantitative intact proteomics. However, as the confounding gel-to-gel variation improves, the variance arising from the subsequent image analysis becomes more prominent. Limitations in image alignment and spot detection of previous generations of 2-DE analysis software have demanded considerable user-intervention and manual editing, resulting in introduction of a large degree of subjectivity and software-induced variance. We evaluated the performance of SameSpots, representing a new generation of 2-DE image analysis software, using both DIGE and traditional single-stain 2-DE approaches. Evaluations of the software-induced variance in relation to other sources of variance, as well as the subjectivity through comparison of analyses performed by an expert user and a novice lab-user, were performed. In terms of statistical power, the less-experienced user achieved the better results, but no discernible difference was detected in multivariate comparisons between the users. In conclusion, we found that SameSpots represents improvements both in reproducibility and objectivity in relation to previous generations of 2-DE analysis software.

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Extended genetic analysis of BTNL2 in sarcoidosis

Cited by 14 publications

References 9 publications

Butyrophilins: an emerging family of immune regulators

Butyrophilins: an emerging family of immune regulators

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

In the Eye of the Beholder: Does the Master See the SameSpots as the Novice?

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