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Showing 13 to 24 of 171 entries
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A novel class of inhibitors that target SRSF10 and promote p53-mediated cytotoxicity on human colorectal cancer cells.

NAR cancer

Sohail M, Shkreta L, Toutant J, Rabea S, Babeu JP, Huard C, Coulombe-Huntington J, Delannoy A, Placet M, Geha S, Gendron FP, Boudreau F, Tyers M, Grierson DS, Chabot B.
PMID: 34316707
NAR Cancer. 2021 May 25;3(2):zcab019. doi: 10.1093/narcan/zcab019. eCollection 2021 Jun.

The elevated expression of the splicing regulator SRSF10 in metastatic colorectal cancer (CRC) stimulates the production of the pro-tumorigenic

TNFRSF13B polymorphisms counter microbial adaptation to enteric IgA.

JCI insight

Platt JL, de Mattos Barbosa MG, Huynh D, Lefferts AR, Katta J, Kharas C, Freddolino P, Bassis CM, Wobus C, Geha R, Bram R, Nunez G, Kamada N, Cascalho M.
PMID: 34111031
JCI Insight. 2021 Jul 22;6(14). doi: 10.1172/jci.insight.148208.

TNFRSF13B encodes the transmembrane activator and CAML interactor (TACI) receptor, which drives plasma cell differentiation. Although TNFRSF13B supports host defense, dominant-negative TNFRSF13B alleles are common in humans and other species and only rarely associate with disease. We reasoned that...

Systematic Assessment of 10 Biomarker Candidates Focusing on α-Synuclein-Related Disorders.

Movement disorders : official journal of the Movement Disorder Society

Schulz I, Kruse N, Gera RG, Kremer T, Cedarbaum J, Barbour R, Zago W, Schade S, Otte B, Bartl M, Hutten SJ, Trenkwalder C, Mollenhauer B.
PMID: 34363416
Mov Disord. 2021 Aug 07; doi: 10.1002/mds.28738. Epub 2021 Aug 07.

BACKGROUND: Objective diagnostic biomarkers are needed to support a clinical diagnosis.OBJECTIVES: To analyze markers in various neurodegenerative disorders to identify diagnostic biomarker candidates for mainly α-synuclein (aSyn)-related disorders (ASRD) in serum and/or cerebrospinal fluid (CSF).METHODS: Upon initial testing of...

Impalement injury of the perineum with an iron rod with a minimal injury: A near miss: A case report.

International journal of surgery case reports

Shrestha BM, Koirala DP, Shrestha S, Kharel S, Lamichane SR, Dahal GR.
PMID: 33607366
Int J Surg Case Rep. 2021 Mar;80:105645. doi: 10.1016/j.ijscr.2021.105645. Epub 2021 Feb 11.

INTRODUCTION AND IMPORTANCE: Penetrating perineal injury in children is uncommon. However, the injury is serious and life-threatening with significant morbidity and mortality.CASE PRESENTATION: We report an unusual case of a 13-year-old boy with an accidental perineal impalement injury by...

Effect of acetaminophen use during pregnancy on adverse pregnancy outcomes: a systematic review and meta-analysis.

Expert opinion on drug safety

Castro CT, Gama RS, Pereira M, Oliveira MG, Dal-Pizzol TS, Barreto ML, Santos DB.
PMID: 34964403
Expert Opin Drug Saf. 2021 Dec 29; doi: 10.1080/14740338.2022.2020246. Epub 2021 Dec 29.

INTRODUCTION: A high number of women are exposed to acetaminophen during pregnancy worldwide. This drug safety during pregnancy regarding preterm birth, birth weight, and fetal development has not been well described. This study investigated the effect of acetaminophen use...

Consensus Middle East and North Africa Registry on Inborn Errors of Immunity.

Journal of clinical immunology

Aghamohammadi A, Rezaei N, Yazdani R, Delavari S, Kutukculer N, Topyildiz E, Ozen A, Baris S, Karakoc-Aydiner E, Kilic SS, Kose H, Gulez N, Genel F, Reisli I, Djenouhat K, Tahiat A, Boukari R, Ladj S, Belbouab R, Ferhani Y, Belaid B, Djidjik R, Kechout N, Attal N, Saidani K, Barbouche R, Bousfiha A, Sobh A, Rizk R, Elnagdy MH, Al-Ahmed M, Al-Tamemi S, Nasrullayeva G, Adeli M, Al-Nesf M, Hassen A, Mehawej C, Irani C, Megarbane A, Quinn J, Maródi L, Modell V, Modell F, Al-Herz W, Geha RS, Abolhassani H.
PMID: 34052995
J Clin Immunol. 2021 Aug;41(6):1339-1351. doi: 10.1007/s10875-021-01053-z. Epub 2021 May 29.

BACKGROUND: Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated...

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.

Journal of clinical immunology

Giardino G, Sharapova SO, Ciznar P, Dhalla F, Maragliano L, Radha Rama Devi A, Islamoglu C, Ikinciogullari A, Haskologlu S, Dogu F, Hanna-Wakim R, Dbaibo G, Chou J, Cirillo E, Borzacchiello C, Kreins AY, Worth A, Rota IA, Marques JG, Sayitoglu M, Firtina S, Mahdi M, Geha R, Neven B, Sousa AE, Benfenati F, Hollander GA, Davies EG, Pignata C.
PMID: 33464451
J Clin Immunol. 2021 May;41(4):756-768. doi: 10.1007/s10875-021-00967-y. Epub 2021 Jan 19.

Human nude SCID is a rare autosomal recessive inborn error of immunity (IEI) characterized by congenital athymia, alopecia, and nail dystrophy. Few cases have been reported to date. However, the recent introduction of newborn screening for IEIs and high-throughput...

Splenic Artery Transposition for Liver Transplantation: An Underutilized Technique?.

Transplantation direct

Goss MB, Galván NTN, Geha JD, Moreno NF, Cotton RT, Rana A, O'Mahony CA, Goss JA.
PMID: 33521250
Transplant Direct. 2021 Jan 26;7(2):e661. doi: 10.1097/TXD.0000000000001103. eCollection 2021 Feb.

BACKGROUND: Successful liver transplantation is dependent on restoration of hepatic arterial (HA) flow. Although uncommon, some native recipient HAs are not suitable or inadequate for anastomosis, thereby necessitating extra-anatomic HA reconstruction. Splenic artery transposition (SAT) is 1 method of...

Systematic Assessment of 10 Biomarker Candidates Focusing on α-Synuclein-Related Disorders.

Movement disorders : official journal of the Movement Disorder Society

Schulz I, Kruse N, Gera RG, Kremer T, Cedarbaum J, Barbour R, Zago W, Schade S, Otte B, Bartl M, Hutten SJ, Trenkwalder C, Mollenhauer B.
PMID: 34363416
Mov Disord. 2021 Dec;36(12):2874-2887. doi: 10.1002/mds.28738. Epub 2021 Aug 07.

BACKGROUND: Objective diagnostic biomarkers are needed to support a clinical diagnosis.OBJECTIVES: To analyze markers in various neurodegenerative disorders to identify diagnostic biomarker candidates for mainly α-synuclein (aSyn)-related disorders (ASRD) in serum and/or cerebrospinal fluid (CSF).METHODS: Upon initial testing of...

Dienaminodioate based multicomponent reactions with post-benzylic oxidative transformations mediated by DDQ.

Organic & biomolecular chemistry

Ravindran J, Yadhukrishnan VO, Asha RS, Lankalapalli RS.
PMID: 32409804
Org Biomol Chem. 2020 May 27;18(20):3927-3937. doi: 10.1039/d0ob00721h.

Multicomponent reactions (MCRs) using dienaminodioate with post-benzylic oxidative transformation mediated by DDQ that afforded a diverse array of products are described. An unprecedented rearrangement of 1,2-dihydropyridines (1,2-DHPs), 3CR products, to 2-pyridones in good yields with a broad substrate scope...

Systematic Assessment of 10 Biomarker Candidates Focusing on α-Synuclein-Related Disorders.

Movement disorders : official journal of the Movement Disorder Society

Schulz I, Kruse N, Gera RG, Kremer T, Cedarbaum J, Barbour R, Zago W, Schade S, Otte B, Bartl M, Hutten SJ, Trenkwalder C, Mollenhauer B.
PMID: 34363416
Mov Disord. 2021 Dec;36(12):2874-2887. doi: 10.1002/mds.28738. Epub 2021 Aug 07.

BACKGROUND: Objective diagnostic biomarkers are needed to support a clinical diagnosis.OBJECTIVES: To analyze markers in various neurodegenerative disorders to identify diagnostic biomarker candidates for mainly α-synuclein (aSyn)-related disorders (ASRD) in serum and/or cerebrospinal fluid (CSF).METHODS: Upon initial testing of...

A Pharmacogenetic Study of VDR fok1 and TYMS Polymorphisms and Their Association With Glucocorticoid-Induced Osteonecrosis in Egyptian Children With Acute Lymphoblastic Leukemia.

Frontiers in oncology

ElHarouni D, Yassin D, Ali N, Gohar S, Zaky I, Adwan H, Sidhom I.
PMID: 30533396
Front Oncol. 2018 Nov 23;8:541. doi: 10.3389/fonc.2018.00541. eCollection 2018.

No abstract available.

Showing 13 to 24 of 171 entries