Results 61 to 70 of about 22,345 (254)

mRNA levels of bar-1 in hlh-26(ok1453) animals and hlh-26(ok1453) animals expressing HLH-26 in the intestine.

, 2022
mRNA levels of bar-1 in wild-type, hlh-26(ok1453) animals, and hlh-26(ok1453) animals overexpressing HLH-26 fed on E. coli or exposed to E. faecium were detected using qRT-PCR.
Yu Sang (2551267), Jie Ren (176083), Alejandro Aballay (51596)   +2 more
core   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

LH and hCG action on the same receptor results in quantitatively and qualitatively different intracellular signalling. [PDF]

PLoS ONE, 2012
Human luteinizing hormone (hLH) and chorionic gonadotropin (hCG) act on the same receptor (LHCGR) but it is not known whether they elicit the same cellular and molecular response.
Livio Casarini, Monica Lispi, Salvatore Longobardi, Fabiola Milosa, Antonio La Marca, Daniela Tagliasacchi, Elisa Pignatti, Manuela Simoni   +7 more
doaj   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis

Journal of Hematology & Oncology, 2022
Hemophagocytic lymphohistiocytosis (HLH), particularly primary HLH (pHLH), is a rare, life-threatening disease. Germline genetic deficiency of 12 known HLH genes impairs cytotoxic degranulation in natural killer (NK) cells or cytotoxic T lymphocytes ...
Xiaoman Bi, Qing Zhang, Lei Chen, Dan Liu, Yueying Li, Xiaoxi Zhao, Ya Zhang, Liping Zhang, Jingkun Liu, Chaoyi Wu, Zhigang Li, Yunze Zhao, Honghao Ma, Gang Huang, Xin Liu, Qian-fei Wang, Rui Zhang   +16 more
doaj   +1 more source

EBV-HLH

, 2022
Patients with confirmed EBV-HLH admitted to Beijing Friendship Hospital from January 2015 to December 2019 were enrolled and statistical analysis of their laboratory test results was performed.THIS DATASET IS ARCHIVED AT DANS/EASY, BUT NOT ACCESSIBLE ...
yao, S (via Mendeley Data)
core   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Hemophagocytic lymphohistiocytosis in children: pathogenesis and treatment

Frontiers in Pediatrics, 2016
Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder in children, which is characterized by fever and hepatosplenomegaly associated with pancytopenia, hypertriglyceridemia and hypofibrinogenemia.
Eiichi eIshii
doaj   +1 more source

Etoposide for HLH: the limits of efficacy [PDF]

Blood, 2017
In this issue of Blood, Bergsten et al report on the pediatric observational treatment study hemophagocytic lymphohistiocytosis (HLH)-2004 and show that upfront ciclosporin A (CSA) and intrathecal steroids do not further improve the success of the etoposide-based HLH-94 protocol ...
openaire   +3 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source