Detalles de la búsqueda
1.
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Am J Hum Genet
; 102(3): 468-479, 2018 03 01.
Artículo
Inglés
| MEDLINE | ID: mdl-29429572
2.
Macrophage Phosphoproteome Analysis Reveals MINCLE-dependent and -independent Mycobacterial Cord Factor Signaling.
Mol Cell Proteomics
; 18(4): 669-685, 2019 04.
Artículo
Inglés
| MEDLINE | ID: mdl-30635358
3.
STAT3 activation through IL-6/IL-11 in cancer-associated fibroblasts promotes colorectal tumour development and correlates with poor prognosis.
Gut
; 69(7): 1269-1282, 2020 07.
Artículo
Inglés
| MEDLINE | ID: mdl-31685519
4.
Tyrosinase Is a Novel Endogenous Regulator of Developmental and Inflammatory Lymphangiogenesis.
Am J Pathol
; 189(2): 440-448, 2019 02.
Artículo
Inglés
| MEDLINE | ID: mdl-30448402
5.
The interaction of ENL with PAF1 mitigates polycomb silencing and facilitates murine leukemogenesis.
Blood
; 131(6): 662-673, 2018 02 08.
Artículo
Inglés
| MEDLINE | ID: mdl-29217648
6.
Activation of Epithelial Signal Transducer and Activator of Transcription 1 by Interleukin 28 Controls Mucosal Healing in Mice With Colitis and Is Increased in Mucosa of Patients With Inflammatory Bowel Disease.
Gastroenterology
; 153(1): 123-138.e8, 2017 07.
Artículo
Inglés
| MEDLINE | ID: mdl-28342759
7.
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Genet Med
; 20(6): 630-638, 2018 06.
Artículo
Inglés
| MEDLINE | ID: mdl-29758562
8.
Prenatal androgen receptor activation determines adult alcohol and water drinking in a sex-specific way.
Addict Biol
; 23(3): 904-920, 2018 05.
Artículo
Inglés
| MEDLINE | ID: mdl-28776866
9.
Paradoxical antidepressant effects of alcohol are related to acid sphingomyelinase and its control of sphingolipid homeostasis.
Acta Neuropathol
; 133(3): 463-483, 2017 03.
Artículo
Inglés
| MEDLINE | ID: mdl-28000031
10.
Hyperandrogenemia and high prolactin in congenital utero-vaginal aplasia patients.
Reproduction
; 153(5): 555-563, 2017 05.
Artículo
Inglés
| MEDLINE | ID: mdl-28246310
11.
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
PLoS Genet
; 10(5): e1004320, 2014 May.
Artículo
Inglés
| MEDLINE | ID: mdl-24784135
12.
α-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy.
Acta Neuropathol
; 132(1): 59-75, 2016 07.
Artículo
Inglés
| MEDLINE | ID: mdl-27059609
13.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Hum Genet
; 134(1): 97-109, 2015 Jan.
Artículo
Inglés
| MEDLINE | ID: mdl-25326669
14.
Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants.
Rheumatology (Oxford)
; 58(5): 915-917, 2019 05 01.
Artículo
Inglés
| MEDLINE | ID: mdl-30753645
15.
NLRP3 Inhibition Leads to Impaired Mucosal Fibroblast Function in Patients with Inflammatory Bowel Diseases.
J Crohns Colitis
; 18(3): 446-461, 2024 Mar 01.
Artículo
Inglés
| MEDLINE | ID: mdl-37748021
16.
Roflumilast inhibits tumor growth and migration in STK11/LKB1 deficient pancreatic cancer.
Cell Death Discov
; 10(1): 124, 2024 Mar 09.
Artículo
Inglés
| MEDLINE | ID: mdl-38461159
17.
Cystathionine ß-synthase as novel endogenous regulator of lymphangiogenesis via modulating VEGF receptor 2 and 3.
Commun Biol
; 5(1): 950, 2022 09 10.
Artículo
Inglés
| MEDLINE | ID: mdl-36088423
18.
Role of Endogenous Regulators of Hem- And Lymphangiogenesis in Corneal Transplantation.
J Clin Med
; 9(2)2020 Feb 09.
Artículo
Inglés
| MEDLINE | ID: mdl-32050484
19.
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.
Eur J Hum Genet
; 27(7): 1061-1071, 2019 07.
Artículo
Inglés
| MEDLINE | ID: mdl-30809043
20.
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
Sci Rep
; 7(1): 12225, 2017 09 22.
Artículo
Inglés
| MEDLINE | ID: mdl-28939912