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Parafibromin – functional insights

Journal of internal medicine, 2009-07, Vol.266 (1), p.84-98

2009

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Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours

Clinical endocrinology (Oxford), 2006-03, Vol.64 (3), p.299-306

2006

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Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal

Oncogene, 2007-02, Vol.26 (8), p.1213-1221

2007

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Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism

Journal of medical genetics, 2005-08, Vol.42 (8), p.e51-e51

2005

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Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome

The Journal of biological chemistry, 2004-05, Vol.279 (21), p.22624-22634

2004

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Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Human molecular genetics, 2012-06, Vol.21 (12), p.2768-2778

2012

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X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase

Genomics (San Diego, Calif.), 2004-12, Vol.84 (6), p.1060-1070

2004

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Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism

Human molecular genetics, 2010-05, Vol.19 (10), p.2028-2038

2010

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An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

The Journal of clinical investigation, 2005-10, Vol.115 (10), p.2822-2831

2005

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CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells

Nature communications, 2017-06, Vol.8 (1), p.43-43, Article 43

2017

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Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

EMBO molecular medicine, 2019-09, Vol.11 (9), p.e10288-n/a

2019

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The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Human molecular genetics, 2019-02, Vol.28 (4), p.584-597

2019

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Genetic landscape of auditory dysfunction

Human molecular genetics, 2018-08, Vol.27 (R2), p.R130-R135

2018

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CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

EMBO molecular medicine, 2017-12, Vol.9 (12), p.1711-1731

2017

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Mouse Models of NMNAT1 -Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease

The American journal of pathology, 2016-07, Vol.186 (7), p.1925-1938

2016

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Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

Nature genetics, 2015-09, Vol.47 (9), p.969-978

2015

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A Missense Glial Cells Missing Homolog B (GCMB) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism

The journal of clinical endocrinology and metabolism, 2010-07, Vol.95 (7), p.3512-3516

2010

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Handheld Optical Coherence Tomography in Paediatric Ophthalmology: Experience of the Department of Ophthalmology in Giessen

Klinische Monatsblatter fur Augenheilkunde, 2016-10, Vol.233 (10), p.1142

2016

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Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density

Clinical endocrinology (Oxford), 2006-11, Vol.65 (5), p.598-605

2006

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Optimisation of Electroporation for Biochemical Experiments in Live Cells

Biochemical and biophysical research communications, 1999-03, Vol.256 (1), p.235-239

1999

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Parafibromin – functional insights

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours

Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal

Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism

Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells

Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Genetic landscape of auditory dysfunction

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

Mouse Models of NMNAT1 -Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

A Missense Glial Cells Missing Homolog B (GCMB) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism

Handheld Optical Coherence Tomography in Paediatric Ophthalmology: Experience of the Department of Ophthalmology in Giessen

Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density

Optimisation of Electroporation for Biochemical Experiments in Live Cells

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