Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Selective JAK1 Inhibitors for the Treatment of Atopic Dermatitis: Focus on Upadacitinib and Abrocitinib

(2020) Sandra Ferreira et al.   AMERICAN JOURNAL OF CLINICAL DERMATOLOGY

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function

(2020) Conor N. Gruber et al.   IMMUNITY

A meta-analysis of pro-inflammatory cytokines in autism spectrum disorders: Effects of age, gender, and latitude

(2019) Amene Saghazadeh et al.   JOURNAL OF PSYCHIATRIC RESEARCH

SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation

(2019) Takuya Takeichi et al.   JOURNAL OF CLINICAL INVESTIGATION

Characterization of JAK1 Pseudokinase Domain in Cytokine Signaling

(2019) Juuli Raivola et al.   Cancers

Electroporation of mice zygotes with dual guide RNA/Cas9 complexes for simple and efficient cloning-free genome editing

(2018) Marie Teixeira et al.   Scientific Reports

Molecular genetics of 22q11.2 deletion syndrome

(2018) Bernice E. Morrow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome

(2017) Kate L. Del Bel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Autoinflammatory keratinization diseases

(2017) Masashi Akiyama et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Elevated Proinflammatory Markers in 22q11.2 Deletion Syndrome Are Associated With Psychosis and Cognitive Deficits

(2017) Ehud Mekori-Domachevsky et al.   JOURNAL OF CLINICAL PSYCHIATRY

Upregulation of IL-9 and JAK-STAT signaling pathway in children with autism

(2017) Sheikh F. Ahmad et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

IQ and hemizygosity for the Val158Met functional polymorphism ofCOMTin 22q11DS

(2016) Colleen P. Franconi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Hyperactivation of JAK1 tyrosine kinase induces stepwise, progressive pruritic dermatitis

(2016) Takuwa Yasuda et al.   JOURNAL OF CLINICAL INVESTIGATION

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

(2016) Davide Eletto et al.   Nature Communications

The JAK-STAT Pathway: Impact on Human Disease and Therapeutic Intervention

(2015) John J. O'Shea et al.   Annual Review of Medicine

22q11.2 deletion syndrome

(2015) Donna M. McDonald-McGinn et al.   Nature Reviews Disease Primers

Association of COMT and PRODH gene variants with intelligence quotient (IQ) and executive functions in 22q11.2DS subjects

(2014) Miri Carmel et al.   JOURNAL OF PSYCHIATRIC RESEARCH

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes

(2014) Petya D. Radoeva et al.   PSYCHIATRIC GENETICS

An ENU Mutagenesis-Derived Mouse Model with a Dominant Jak1 Mutation Resembling Phenotypes of Systemic Autoimmune Disease

(2013) Sibylle Sabrautzki et al.   AMERICAN JOURNAL OF PATHOLOGY

GFOLD: a generalized fold change for ranking differentially expressed genes from RNA-seq data

(2012) Jianxing Feng et al.   BIOINFORMATICS

COMT Implication in Cognitive and Psychiatric Symptoms in Chromosome 22q11 Microdeletion Syndrome: A Selective Review

(2012) Marco Armando et al.   CNS & Neurological Disorders-Drug Targets

IL-6 is increased in the cerebellum of autistic brain and alters neural cell adhesion, migration and synaptic formation

(2011) Hongen Wei et al.   Journal of Neuroinflammation

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

(2011) Anne S. Bassett et al.   JOURNAL OF PEDIATRICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic Mutations of JAK1 and JAK3 in Acute Leukemias and Solid Cancers

(2008) E. G. Jeong et al.   CLINICAL CANCER RESEARCH

Somatically acquiredJAK1mutations in adult acute lymphoblastic leukemia

(2008) Elisabetta Flex et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

(2008) Kimberly L Stark et al.   NATURE GENETICS

Identification of somatic JAK1 mutations in patients with acute myeloid leukemia

(2007) Z. Xiang et al.   BLOOD