Genetic mutations in sporadic pituitary adenomas—what to screen for?

Acromegaly and McCune-Albright Syndrome

(2014) Sylvie Salenave et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: Mutational hot-spot or founder effect?

(2014) G. Occhi et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Familial isolated pituitary adenomas: An emerging clinical entity

(2014) F. Martucci et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors

(2014) Gerald Goh et al.   NATURE GENETICS

PRKACB and Carney Complex

(2014) Antonella Forlino et al.   NEW ENGLAND JOURNAL OF MEDICINE

Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome

(2014) Felix Beuschlein et al.   NEW ENGLAND JOURNAL OF MEDICINE

Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome

(2014) Y. Cao et al.   SCIENCE

Familial Isolated Pituitary Adenoma Caused by a Aip Gene Mutation not Described Before in a Family Context

(2013) J. A. García-Arnés et al.   ENDOCRINE PATHOLOGY

Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene

(2013) Albert Beckers et al.   ENDOCRINE REVIEWS

Aip regulates cAMP signalling and GH secretion in GH3 cells

(2013) R Formosa et al.   ENDOCRINE-RELATED CANCER

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

(2013) Thomas Cuny et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Screening for AIP gene mutations in a Han Chinese pituitary adenoma cohort followed by LOH analysis

(2013) Feng Cai et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Clinical Experience in the Screening and Management of a Large Kindred With Familial Isolated Pituitary Adenoma Due to an Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutation

(2013) Fred Williams et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic and epigenetic mutations of tumor suppressive genes in sporadic pituitary adenoma

(2013) Yunli Zhou et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype

(2013) Gianluca Occhi et al.   PLoS Genetics

MEN1 Gene Replacement Therapy Reduces Proliferation Rates in a Mouse Model of Pituitary Adenomas

(2012) G. V. Walls et al.   CANCER RESEARCH

Confusing genes: a patient with MEN2A and Cushing's disease

(2012) Auditi Naziat et al.   CLINICAL ENDOCRINOLOGY

Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds

(2012) Maria A Tichomirowa et al.   ENDOCRINE-RELATED CANCER

Germline mutations of AIP gene in somatotropinomas resistant to somatostatin analogues

(2012) Josep Oriola et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

SomaticGNASMutation Causes Widespread and Diffuse Pituitary Disease in Acromegalic Patients with McCune-Albright Syndrome

(2012) Alexander O. Vortmeyer et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Germline AIP Mutations in Apparently Sporadic Pituitary Adenomas: Prevalence in a Prospective Single-Center Cohort of 443 Patients

(2012) Laure Cazabat et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1)

(2012) Rajesh V. Thakker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Somatostatin Analogs Modulate AIP in Somatotroph Adenomas: The Role of the ZAC1 Pathway

(2012) Harvinder S. Chahal et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Should aip gene screening be recommended in family members of FIPA patients with R16H variant?

(2012) Maria Chiara Zatelli et al.   Pituitary

The Negative Feedback-Loop between the Oncomir Mir-24-1 and Menin Modulates the Men1 Tumorigenesis by Mimicking the “Knudson’s Second Hit”

(2012) Ettore Luzi et al.   PLoS One

Familial Isolated Pituitary Adenomas: From Genetics to Therapy

(2011) Federica Guaraldi et al.   CTS-Clinical and Translational Science

Hyperplasia–adenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation

(2011) Chiara Villa et al.   ENDOCRINE-RELATED CANCER

High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas

(2011) Maria A Tichomirowa et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Unique Gene Expression Profile Associated with an Early-Onset Multiple Endocrine Neoplasia (MEN1)-Associated Pituitary Adenoma

(2011) William E. Farrell et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pathogenesis of pituitary tumors

(2011) Shlomo Melmed   Nature Reviews Endocrinology

AIPMutation in Pituitary Adenomas

(2011)   NEW ENGLAND JOURNAL OF MEDICINE

AIPMutation in Pituitary Adenomas in the 18th Century and Today

(2011) Harvinder S. Chahal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mice with Inactivation of Aryl Hydrocarbon Receptor-Interacting Protein (Aip) Display Complete Penetrance of Pituitary Adenomas with Aberrant ARNT Expression

(2010) Anniina Raitila et al.   AMERICAN JOURNAL OF PATHOLOGY

Multiple endocrine neoplasia type 1 (MEN1)

(2010) Rajesh V. Thakker   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

The role of germlineAIP,MEN1, PRKAR1A,CDKN1BandCDKN2Cmutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes

(2010) CA Stratakis et al.   CLINICAL GENETICS

Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia

(2010) G Occhi et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families

(2010) Susana Igreja et al.   HUMAN MUTATION

A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization

(2010) Sara Molatore et al.   HUMAN MUTATION

Incidence of Pituitary Adenomas in Northern Finland in 1992–2007

(2010) Antti Raappana et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical Characteristics and Therapeutic Responses in Patients with Germ-LineAIPMutations and Pituitary Adenomas: An International Collaborative Study

(2010) Adrian F. Daly et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Expression of AIP-Related Molecules in Elucidation of Cellular Pathways in Pituitary Adenomas

(2009) Elina Heliövaara et al.   AMERICAN JOURNAL OF PATHOLOGY

Pituitary Tumors and Hyperplasia in Multiple Endocrine Neoplasia Type 1 Syndrome (MEN1): A Case-Control Study in a Series of 77 Patients Versus 2509 Non-MEN1 Patients

(2009) Jacqueline Trouillas et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Prevalence of pituitary adenomas: a community-based, cross-sectional study in Banbury (Oxfordshire, UK)

(2009) Alberto Fernandez et al.   CLINICAL ENDOCRINOLOGY

G-protein signalling negatively regulates the stability of aryl hydrocarbon receptor

(2009) Asuka Nakata et al.   EMBO REPORTS

Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia

(2009) Brian Harding et al.   ENDOCRINE-RELATED CANCER

Expression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications

(2009) Marie-Lise Jaffrain-Rea et al.   ENDOCRINE-RELATED CANCER

Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene

(2009) Juliet E Jennings et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

An Intronic Mutation is Associated with Prolactinoma in a Young Boy, Decreased Penetrance in his Large Family, and Variable Effects onMEN1 mRNAand Protein

(2009) L. Drori-Herishanu et al.   HORMONE AND METABOLIC RESEARCH

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes

(2009) Jérôme Bertherat et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Rare Germline Mutations in Cyclin-Dependent Kinase Inhibitor Genes in Multiple Endocrine Neoplasia Type 1 and Related States

(2009) Sunita K. Agarwal et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The aryl hydrocarbon receptor cross-talks with multiple signal transduction pathways

(2008) Alvaro Puga et al.   BIOCHEMICAL PHARMACOLOGY

Aryl hydrocarbon receptor interacting protein(AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas

(2008) Marianthi Georgitsi et al.   CLINICAL ENDOCRINOLOGY

Aryl Hydrocarbon Receptor Interacting Protein Gene (AIP) Mutations are Rare in Patients with Hormone Secreting or Non-secreting Pituitary Adenomas

(2008) S. Buchbinder et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

Large Genomic Deletions inAIPin Pituitary Adenoma Predisposition

(2008) Marianthi Georgitsi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Role of the Aryl Hydrocarbon Receptor-Interacting Protein Gene in Familial and Sporadic Pituitary Adenomas

(2008) Chrysanthia A. Leontiou et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutation inPDE8B,a Cyclic AMP–Specific Phosphodiesterase in Adrenal Hyperplasia

(2008) Anelia Horvath et al.   NEW ENGLAND JOURNAL OF MEDICINE

McCune-Albright syndrome

(2008) Claudia E Dumitrescu et al.   Orphanet Journal of Rare Diseases

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene

(2007) Manuel C. Lemos et al.   HUMAN MUTATION