4.5 Article

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

A Dominant STIM1 Mutation Causes Stormorken Syndrome

Doriana Misceo et al.

HUMAN MUTATION (2014)

Article Genetics & Heredity

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Johann Boehm et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

Katsiaryna Belaya et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Clinical Neurology

Tubular aggregates in skeletal muscle: Just a special type of protein aggregates?

Stefano Schiaffino

NEUROMUSCULAR DISORDERS (2012)

Article Multidisciplinary Sciences

Crystal Structure of the Calcium Release-Activated Calcium Channel Orai

Xiaowei Hou et al.

SCIENCE (2012)

Article Genetics & Heredity

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Review Urology & Nephrology

The Regulation of Parathyroid Hormone Secretion and Synthesis

Rajiv Kumar et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2011)

Article Multidisciplinary Sciences

Mutations in Orai1 transmembrane segment 1 cause STIM1-independent activation of Orai1 channels at glycine 98 and channel closure at arginine 91

Shenyuan L. Zhang et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Multidisciplinary Sciences

Pore architecture of the ORAI1 store-operated calcium channel

Yubin Zhou et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Allergy

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia

Christie-Ann McCarl et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2009)

Article Medicine, General & Internal

Brief Report: STIM1 Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity.

Capucine Picard et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Article Biochemistry & Molecular Biology

Dynamic coupling of the putative coiled-coil domain of ORAI1 with STIM1 mediates ORAI1 channel activation

Martin Muik et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2008)

Article Clinical Neurology

Tubular aggregate myopathy: A rare form of myopathy

Deepali Jain et al.

JOURNAL OF CLINICAL NEUROSCIENCE (2008)

Article Medicine, General & Internal

Hypoparathyroidism

Dolores Shoback

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Biochemistry & Molecular Biology

Biochemical and functional characterization of Orai proteins

Yousang Gwack et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Multidisciplinary Sciences

Orai1 is an essential pore subunit of the CRAC channel

Murali Prakriya et al.

NATURE (2006)

Article Multidisciplinary Sciences

Molecular identification of the CRAC channel by altered ion selectivity in a mutant of Orai

Andriy V. Yeromin et al.

NATURE (2006)

Article Multidisciplinary Sciences

CRACM1 is a plasma membrane protein essential for store-operated Ca2+ entry

M. Vig et al.

SCIENCE (2006)

Review Clinical Neurology

Sarcoplasmic reticulum: The dynamic calcium governor of muscle

Ann E. Rossi et al.

MUSCLE & NERVE (2006)

Article Oncology

The origin of tubular aggregates in human myopathies

F Chevessier et al.

JOURNAL OF PATHOLOGY (2005)

Article Biochemistry & Molecular Biology

STIM is a Ca2+ sensor essential for Ca2+-store-depletion-triggered Ca2+ influx

J Liou et al.

CURRENT BIOLOGY (2005)