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Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway

PloS one, 2016-12, Vol.11 (12), p.e0167916

2016

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N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models

PloS one, 2015-04, Vol.10 (4), p.e0122650

2015

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An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess

Endocrinology (Philadelphia), 2014-03, Vol.155 (3), p.908-922

2014

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Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies

Frontiers in molecular biosciences, 2023, Vol.10, p.1279700

2023

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A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis

PloS one, 2012-08, Vol.7 (8), p.e43205

2012

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A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation

PloS one, 2012-09, Vol.7 (9), p.e45217

2012

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Helios is a key transcriptional regulator of outer hair cell maturation

Nature (London), 2018-11, Vol.563 (7733), p.696-700

2018

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Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo

Muscle & nerve, 2007-10, Vol.36 (4), p.455-465

2007

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Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic Mouse Model of Type 2 Diabetes

Diabetes (New York, N.Y.), 2016-05, Vol.65 (5), p.1434-1446

2016

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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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SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

Human molecular genetics, 2007-02, Vol.16 (3), p.327-342

2007

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A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation

Journal of bone and mineral research, 2012-02, Vol.27 (2), p.413-428

2012

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The Adenosine A2A Receptor Interacts with the Actin-binding Protein α-Actinin

The Journal of biological chemistry, 2003-09, Vol.278 (39), p.37545-37552

2003

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Prevalence of Ras mutations in thyroid neoplasia

Clinical endocrinology (Oxford), 1999-04, Vol.50 (4), p.529-535

1999

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Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells

Human molecular genetics, 2005-01, Vol.14 (2), p.295-305

2005

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An N -Ethyl- N -Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

JBMR plus, 2018-05, Vol.2 (3), p.154-163

2018

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Bone Mineral Content and Density

Current protocols in mouse biology, 2012-12, Vol.2 (4), p.365-400

2012

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SGCE missense mutations that cause myoclonus-dystonia syndrome impair -sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

Human molecular genetics, 2007-02, Vol.16 (3), p.327-342

2007

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Glycosylation Defects and Muscular Dystrophy

Advances in experimental medicine and biology, 2005, Vol.564, p.97-98

2005

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Ikzf2/helios is a key transcriptional regulator of outer hair cell maturation

Nature (London), 2018-11, Vol.563 (7733), p.696-700

2018

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Mice with an N-Ethyl-N-Nitrosourea Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway

PloS one, 2016-12, Vol.11 (12), p.e0167916

2016

Volltextzugriff (PDF)

Haplo-Insufficiency of the Insulin Receptor in the presence of a splice-site mutation in Ppp2r2a results in a novel di-genic mouse model of type 2 diabetes

Diabetes (New York, N.Y.), 2016-02, Vol.65 (5), p.1434-1446

2016

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GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness

Hormones & cancer, 2013-06, Vol.4 (3), p.123-139

2013

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A Mouse with an N-Ethyl-N-Nitrosourea

PloS one, 2012-08, Vol.7 (8), p.e43205

2012

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A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors

American journal of human genetics, 1998-11, Vol.63 (5), p.1544-1549

1998

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Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway

N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models

An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies

A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis

A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation

Helios is a key transcriptional regulator of outer hair cell maturation

Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo

Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic Mouse Model of Type 2 Diabetes

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

SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation

The Adenosine A2A Receptor Interacts with the Actin-binding Protein α-Actinin

Prevalence of Ras mutations in thyroid neoplasia

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells

An N -Ethyl- N -Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

Bone Mineral Content and Density

SGCE missense mutations that cause myoclonus-dystonia syndrome impair -sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

Glycosylation Defects and Muscular Dystrophy

Ikzf2/helios is a key transcriptional regulator of outer hair cell maturation

Mice with an N-Ethyl-N-Nitrosourea Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway

Haplo-Insufficiency of the Insulin Receptor in the presence of a splice-site mutation in Ppp2r2a results in a novel di-genic mouse model of type 2 diabetes

GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness

A Mouse with an N-Ethyl-N-Nitrosourea

A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors

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