Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology

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

(2018) Elena J. Tucker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing

(2018) Paul Laissue   MOLECULAR AND CELLULAR ENDOCRINOLOGY

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

(2018) Clémence Delcour et al.   GENETICS IN MEDICINE

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

(2017) Liliana Catherine Patiño et al.   HUMAN REPRODUCTION

ESHRE Guideline: management of women with premature ovarian insufficiency

(2016)   HUMAN REPRODUCTION

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

(2016) Justine Bouilly et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Notch signalling in context

(2016) Sarah J. Bray   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations

(2015) Dora Janeth Fonseca et al.   FERTILITY AND STERILITY

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

(2015) Roger A. J. Habets et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2015) Stine Gry Kristensen et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

The Notch1 transcriptional activation domain is required for development and reveals a novel role for Notch1 signaling in fetal hematopoietic stem cells

(2014) D. M. Gerhardt et al.   GENES & DEVELOPMENT

Notch Signaling Regulates Ovarian Follicle Formation and Coordinates Follicular Growth

(2014) Dallas A. Vanorny et al.   MOLECULAR ENDOCRINOLOGY

Notch2 is required in somatic cells for breakdown of ovarian germ-cell nests and formation of primordial follicles

(2013) Jingxia Xu et al.   BMC BIOLOGY

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

(2013) Gamze Tanriverdi et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

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

(2012) Scott E. Johnson et al.   PLoS One

Conformational Locking upon Cooperative Assembly of Notch Transcription Complexes

(2012) Sung Hee Choi et al.   STRUCTURE

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

(2011) Mary J Gray et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2

(2011) Bertrand Isidor et al.   HUMAN MUTATION

NOTCH2mutations in Alagille syndrome

(2011) Binita Maya Kamath et al.   JOURNAL OF MEDICAL GENETICS

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

(2011) Bertrand Isidor et al.   NATURE GENETICS

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

(2011) Michael A Simpson et al.   NATURE GENETICS

Primary ovarian insufficiency

(2010) Michel De Vos et al.   LANCET

The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism

(2009) Raphael Kopan et al.   CELL

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

(2008) Daniel J. Trombly et al.   ENDOCRINOLOGY

RAM-induced Allostery Facilitates Assembly of a Notch Pathway Active Transcription Complex

(2008) David R. Friedmann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2007) Corrine K. Welt   CLINICAL ENDOCRINOLOGY