Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype

(2015) Vassilios Lougaris et al.   CLINICAL IMMUNOLOGY

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

A human immunodeficiency caused by mutations in the PIK3R1 gene

(2015) Marie-Céline Deau et al.   JOURNAL OF CLINICAL INVESTIGATION

Synergy in activating class I PI3Ks

(2015) John E. Burke et al.   TRENDS IN BIOCHEMICAL SCIENCES

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

(2014) Clea Bárcena et al.   BMC Medical Genetics

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

(2014) Sven Kracker et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility

(2014) M. C. Crank et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A human immunodeficiency caused by mutations in the PIK3R1 gene

(2014) Marie-Céline Deau et al.   JOURNAL OF CLINICAL INVESTIGATION

Heterozygous splice mutation inPIK3R1causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

(2014) Carrie L. Lucas et al.   JOURNAL OF EXPERIMENTAL MEDICINE

BRD7, a Tumor Suppressor, Interacts with p85α and Regulates PI3K Activity

(2014) Yu-Hsin Chiu et al.   MOLECULAR CELL

Correction: Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2014) Slavé Petrovski et al.   PLoS Genetics

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

(2013) Christel Thauvin-Robinet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PIK3R1 Cause SHORT Syndrome

(2013) David A. Dyment et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling

(2013) Kishan Kumar Chudasama et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Signaling by the Phosphoinositide 3-Kinase Family in Immune Cells

(2013) Klaus Okkenhaug   Annual Review of Immunology

Autosomal dominantPIK3R1mutations cause SHORT syndrome

(2013) B.K. Chung et al.   CLINICAL GENETICS

PIK3R1mutations in SHORT syndrome

(2013) C. Schroeder et al.   CLINICAL GENETICS

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

(2013) Carrie L Lucas et al.   NATURE IMMUNOLOGY

The Mouse Genome Database: integration of and access to knowledge about the laboratory mouse

(2013) Judith A. Blake et al.   NUCLEIC ACIDS RESEARCH

Phosphoinositide 3-Kinase   Gene Mutation Predisposes to Respiratory Infection and Airway Damage

(2013) I. Angulo et al.   SCIENCE

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K

(2012) Mary Ellen Conley et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Negative regulation of mTOR activation by diacylglycerol kinases

(2011) B. K. Gorentla et al.   BLOOD

Insulin signaling meets mitochondria in metabolism

(2010) Zhiyong Cheng et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM