4.5 Article

Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology

Related references

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

ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure

Clemente Delcour et al.

GENETICS IN MEDICINE (2019)

Article Biochemistry & Molecular Biology

Identification of variants in pleiotropic genes causing isolated premature ovarian insufficiency: implications for medical practice

Elena J. Tucker et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2018)

Article Obstetrics & Gynecology

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

Liliana Catherine Patino et al.

HUMAN REPRODUCTION (2017)

Review Developmental Biology

The role of Notch signaling in the mammalian ovary

Dallas A. Vanorny et al.

REPRODUCTION (2017)

Review Developmental Biology

The developmental biology of genetic Notch disorders

Jan Masek et al.

DEVELOPMENT (2017)

Article Obstetrics & Gynecology

ESHRE Guideline: management of women with premature ovarian insufficiency

L. Webber et al.

HUMAN REPRODUCTION (2016)

Article Endocrinology & Metabolism

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

Justine Bouilly et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Review Cell Biology

Notch signalling in context

Sarah J. Bray

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2016)

Article Biochemistry & Molecular Biology

Human NOTCH2 Is Resistant to Ligand-independent Activation by Metalloprotease Adam17

Roger A. J. Habets et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2015)

Article Cell Biology

Transcriptional profiling of five isolated size-matched stages of human preantral follicles

Stine Gry Kristensen et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2015)

Article Developmental Biology

Notch signaling represses GATA4-induced expression of genes involved in steroid biosynthesis

Rajani M. George et al.

REPRODUCTION (2015)

Article Endocrinology & Metabolism

Notch Signaling Regulates Ovarian Follicle Formation and Coordinates Follicular Growth

Dallas A. Vanorny et al.

MOLECULAR ENDOCRINOLOGY (2014)

Article Genetics & Heredity

Notch signaling pathway in cumulus cells can be a novel marker to identify poor and normal responder IVF patients

Gamze Tanriverdi et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2013)

Article Biochemistry & Molecular Biology

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome

Mary J. Gray et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

NOTCH2 mutations in Alagille syndrome

Binita Maya Kamath et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Multidisciplinary Sciences

Dissecting and Circumventing the Requirement for RAM in CSL-Dependent Notch Signaling

Scott E. Johnson et al.

PLOS ONE (2012)

Article Biochemistry & Molecular Biology

Conformational Locking upon Cooperative Assembly of Notch Transcription Complexes

Sung Hee Choi et al.

STRUCTURE (2012)

Article Genetics & Heredity

Serpentine Fibula-Polycystic Kidney Syndrome Caused by Truncating Mutations in NOTCH2

Bertrand Isidor et al.

HUMAN MUTATION (2011)

Article Genetics & Heredity

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A. Simpson et al.

NATURE GENETICS (2011)

Article Medicine, General & Internal

Primary ovarian insufficiency

Michel De Vos et al.

LANCET (2010)

Review Biochemistry & Molecular Biology

The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism

Raphael Kopan et al.

Article Endocrinology & Metabolism

Suppression of Notch Signaling in the Neonatal Mouse Ovary Decreases Primordial Follicle Formation

Daniel J. Trombly et al.

ENDOCRINOLOGY (2009)

Review Endocrinology & Metabolism

Primary ovarian insufficiency: a more accurate term for premature ovarian failure

Corrine K. Welt

CLINICAL ENDOCRINOLOGY (2008)

Article Biochemistry & Molecular Biology

RAM-induced allostery facilitates assembly of a Notch pathway active transcription complex

David R. Friedmann et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2008)

Article Genetics & Heredity

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

Ryan McDaniell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

Article Obstetrics & Gynecology

Premature menopause in a multi-ethnic population study of the menopause transition

JL Luborsky et al.

HUMAN REPRODUCTION (2003)

Article Medicine, General & Internal

Premature ovarian failure

GS Conway

BRITISH MEDICAL BULLETIN (2000)