Results 311 to 320 of about 207,009 (370)

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi, Carmela Fusco, Rosamaria Mura, Carla Cerruto, Leonardo D'Agruma, Salvatore Carnazzo, Marco Castori, Salvatore Savasta   +7 more
wiley   +1 more source

Protein phosphatases in systemic autoimmunity. [PDF]

Immunometabolism (Cobham)
Pan W, Tsokos MG, Li W, Tsokos GC.
europepmc   +1 more source

101 Lupus nephritis mortality by sex, age, geographic region, urbanization, and race/ethnicity: a nationwide population-based study

Lupus Science and Medicine
Snehin Rajkumar, Ram Raj Singh, Eric Yen
doaj   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey, Liam Gaziano, Preethi Eldi, Catherine Toben, Beben Benyamin, S. Hong Lee, Elina Hyppönen   +6 more
wiley   +1 more source

Restoring immune tolerance in pre-RA: immunometabolic dialogue between gut microbiota and regulatory T cells. [PDF]

Front Immunol
Gao A, Wu R, Mu Y, Jin R, Jiang S, Gao C, Li X, Wang C.   +7 more
europepmc   +1 more source

SARS-CoV-2 Infection and Childhood Islet Autoimmunity.

JAMA Pediatr
Walker GJ, Mallitt KA, Craig ME, Ashwood P, Barry SC, Brown JD, Caguicla J, Davis EA, Hamilton-Williams EE, Harrison LC, Haynes A, Huynh T, Martin G, McGorm KJ, Morahan G, Naing Z, Oakey H, Penno MAS, Sevendal A, Sinnott RO, Soldatos G, Thomson RL, Tye-Din J, Vuillermin PJ, Ward EJ, Wentworth JM, Colman PG, Couper JJ, Kim KW, Rawlinson WD, ENDIA Study Group.   +30 more
europepmc   +1 more source

The Burden of Non-Infectious Organ-Specific Immunopathology in Pediatric Common Variable Immunodeficiency. [PDF]

Int J Mol Sci
Szczawińska-Popłonyk A, Bekalarska J, Jęch K, Knobloch N, Łukasik O, Ossowska A, Ruducha J, Wysocka Z.   +7 more
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Lymph nodes as gatekeepers of autoimmune diseases. [PDF]

RMD Open
O'Byrne AM, van Baarsen LGM.
europepmc   +1 more source