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Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects

Lonneke Haer-Wigman
Amber den Ouden
Kornelia Neveling
ResearchOpen Access04 May 2024
npj Genomic Medicine

Volume: 9, P: 1-4
Correction: Corrigendum: Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset retinal dystrophy

A R Janecke
D A Thompson
A Gal
Amendments and Corrections01 Sept 2004
Nature Genetics

Volume: 36, P: 1024
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

Carsten M. Pusch
Christina Zeitz
Alfons Meindl
Research01 Nov 2000
Nature Genetics

Volume: 26, P: 324-327
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Mutations in proteins that localize to primary cilia cause devastating diseases, yet the primary cilium is a poorly understood organelle. Here the authors use interaction proteomics to identify a network of human ciliary proteins that provides new insights into several biological processes and diseases.

Karsten Boldt
Jeroen van Reeuwijk
Kathy Williamson
ResearchOpen Access13 May 2016
Nature Communications

Volume: 7, P: 1-13
Disease-associated functions of IL-33: the new kid in the IL-1 family

The most recently described member of the interleukin-1 (IL-1) family, IL-33, as described in this Review, has an important role in immune regulation, as well as in infectious and inflammatory diseases, and thereby could have therapeutic potential.

Foo Y. Liew
Nick I. Pitman
Iain B. McInnes
Reviews18 Jan 2010
Nature Reviews Immunology

Volume: 10, P: 103-110
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Susanne Kohl
Balazs Varsanyi
Bernd Wissinger
Research15 Dec 2004
European Journal of Human Genetics

Volume: 13, P: 302-308
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

Janey Wiggs, Jonathan Haines and colleagues identify three new susceptibility loci for primary open-angle glaucoma. The association signals map near genes implicated in ocular development (FOXC1), neurodegeneration (ATXN2) and mitochondrial function (TXNRD2).

Jessica N Cooke Bailey
Stephanie J Loomis
Janey L Wiggs
Research11 Jan 2016
Nature Genetics

Volume: 48, P: 189-194
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Elena Buena-Atienza
Klaus Rüther
Bernd Wissinger
ResearchOpen Access24 Jun 2016
Scientific Reports

Volume: 6, P: 1-11
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

Veronique B D Kitiratschky
Tanja Grau
Bernd Wissinger
Research20 Feb 2008
European Journal of Human Genetics

Volume: 16, P: 812-819
Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration

L Buret
G Rebillard
C Delettre
ResearchOpen Access07 Mar 2016
Cell Death Discovery

Volume: 2, P: 1-10
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Crystel Bonnet
Zied Riahi
Christine Petit
ResearchOpen Access27 Jul 2016
European Journal of Human Genetics

Volume: 24, P: 1730-1738
A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics

D Nguyen
M V Alavi
W-K Ju
ResearchOpen Access08 Dec 2011
Cell Death & Disease

Volume: 2, P: e240
Manipulation of acute inflammatory lung disease

E L Wissinger
J Saldana
T Hussell
Reviews07 May 2008
Mucosal Immunology

Volume: 1, P: 265-278

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Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects

Correction: Corrigendum: Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset retinal dystrophy

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Disease-associated functions of IL-33: the new kid in the IL-1 family

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics

Manipulation of acute inflammatory lung disease

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