Results 121 to 130 of about 58,780 (225)

Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut–brain endothelial dysfunction

Clinical &Translational Immunology, Volume 15, Issue 2, 2026.
Abstract Objective Aicardi–Goutières syndrome (AGS) is a rare genetic interferonopathy because of aberrant DNA or RNA metabolism with secondary host anti‐viral (interferon) activation. This metabolomics study aimed to improve the biological understanding of AGS and explore potential biomarkers.
Russell C Dale, Madysen Elbourne, Markus J Hofer, Shrujna Patel, Shekeeb Mohammad, Velda X Han, Josephine Yu, Shanlin Fu, Arlene D'Silva, Michelle A Farrar, Sushil Bandodkar, Jingya J Yan   +11 more
wiley   +1 more source

Corticotropin-releasing hormone as the homeostatic rheostat of feto-maternal symbiosis and developmental programming In utero and neonatal life [PDF]

, 2017
A balanced interaction between the homeostatic mechanisms of mother and the devel- oping organism during pregnancy and in early neonatal life is essential in order to ensure optimal fetal development, ability to respond to various external and internal ...
Alcantara-Alonso, Alexander, Arborelius, Bale, Baram, Barker, Bellisario, Benjamin Neelon, Bosch, Bouret, Bowman, Briana, Brummelte, Brunson, Brunton, Brunton, Brunton, Brunton, Capron, Chen, Chen, Choy, Cirulli, Cirulli, Class, Clifton, Cottrell, Dallman, Davis, de Weerth, Demendi, Desai, Dimasuay, Dunkel, D’Amato, Eghbal-Ahmadi, Ehlers, Ellman, Entringer, Fasting, Faturi, Fenoglio, Gao, Gillman, Glynn, Gomez-Roig, Grammatopoulos, Gunnar, Harville, Hollrigel, Husum, Ibanez, Kammerer, Kensara, Korosi, Labonte, Ladyman, Larsen, Lee, Lockwood, Machado, MacKay, Maffeis, Magiakou, Maniam, Marciniak, McLean, Mingrone, Owens, Pasquali, Paternain, Pedersen, Pelleymounter, Peng, Perrone, Pervanidou, Petraglia, Pihoker, Plotsky, Purcell, Robinson, Romens, Sanchez, Sandman, Sandman, Schmidt, Schulte, Seckl, Seckl, Sferruzzi-Perri, Shapiro, Singh-Taylor, Smith, Soma-Pillay, Stout, Suderman, Sun, Symonds, Tamashiro, Turecki, van Bodegom, Vazquez, Vickers, Wadhwa, Wakahashi, Walker, Wang, Weaver, Weaver, Weinstock, Whitaker, Whitehead, Wolfe, Yam, Zambrano   +114 more
core   +3 more sources

HMGA2 variants in Silver-Russell syndrome: homozygous and heterozygous occurrence.

Journal of Clinical Endocrinology and Metabolism, 2020
CONTEXT Silver-Russell syndrome (SRS) is a clinical and molecular heterogeneous disorder, associated with short stature, typical facial gestalt, and body asymmetry.
C. Hübner, R. Meyer, Asmaa Kenawy, L. Ambrozaitytė, A. Matulevičienė, Florian Kraft, M. Begemann, M. Elbracht, T. Eggermann   +8 more
semanticscholar   +1 more source

Laboratory Identification of Lupus Anticoagulant (LA) Using Different Activated Partial Thromboplastin Time (APTT) Assays

International Journal of Laboratory Hematology, Volume 48, Issue 1, Page 172-178, February 2026.
ABSTRACT Introduction The International Society of Thrombosis and Hemostasis (ISTH) guidelines suggest a three‐step evaluation for the detection of lupus anticoagulant (LA), including screening, mixing, and confirmation. According to the guidelines, the LA assay based on activated partial thromboplastin time (APTT) should include an initial screening ...
Bárbara G. Barion, Bianca Stefanello, Maria Luiza S. A. de Paula, Thaís S. Saraiva, Paula R. Villaça, Vanderson Rocha, Fernanda A. Orsi, Tania R. F. da Rocha   +7 more
wiley   +1 more source

The Case of Dilated Cardiomiopathy, the Girl of Three Years from the Silver-Rassel Syndrom

Медицинский вестник Юга России, 2012
Dilated cardiomyopathy is a serious disabling disease with unclear etiology. In some cases, its occurrence is associated with genetic mutations. In this context the case of dilated cardiomyopathy of the three years old girl from the Silver-Russell ...
A. A. Lebedenko, A. M. Sarichev, E. A. Tarasova, T. A. Yanovskaya, E. V. Nosova, A. V. Kharlamova   +5 more
doaj  

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

PLoS ONE, 2013
BackgroundRecent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation of the H19-differentially methylated region (DMR) and uniparental maternal disomy 7 (
Tomoko Fuke, Seiji Mizuno, Toshiro Nagai, Tomonobu Hasegawa, Reiko Horikawa, Yoko Miyoshi, Koji Muroya, Tatsuro Kondoh, Chikahiko Numakura, Seiji Sato, Kazuhiko Nakabayashi, Chiharu Tayama, Kenichiro Hata, Shinichiro Sano, Keiko Matsubara, Masayo Kagami, Kazuki Yamazawa, Tsutomu Ogata   +17 more
doaj   +1 more source

Successful generation of epigenetic disease model mice by targeted demethylation of the epigenome

Genome Biology, 2020
Background Epigenetic modifications, including DNA methylation, play an important role in gene silencing and genome stability. Consequently, epigenetic dysregulation can cause several diseases, such as cancer, obesity, diabetes, autism, and imprinting ...
Takuro Horii, Sumiyo Morita, Shinjiro Hino, Mika Kimura, Yuko Hino, Hiroshi Kogo, Mitsuyoshi Nakao, Izuho Hatada   +7 more
doaj   +1 more source

Subcellular localization of the five members of the human steroid 5α-reductase family [PDF]

, 2017
In humans the steroid 5a-reductase (SRD5A) family comprises five integral membrane enzymes that carry out reduction of a double bond in lipidic substrates: D4-3-keto steroids, polyprenol and trans-enoyl CoA.
Asteriti, ITALIA ANNA, Bruni, Renato, Cerutti, Gabriele, Lavia, Patrizia, Mancia, Filippo, Montemiglio, LINDA CELESTE, Parisi, Giacomo, Savino, Carmelinda, Scaglione, Antonella, Testi, Claudia, Vallone, Beatrice   +10 more
core   +3 more sources

Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome

Clinical Epigenetics, 2020
Background Pathogenic CDKN1C gain-of-function variants on the maternal allele were initially reported as a cause of IMAGe syndrome characterized by intrauterine growth retardation, metaphyseal dysplasia, primary adrenal insufficiency and genital ...
G. Binder, Julian Ziegler, R. Schweizer, Wisam Habhab, T. Haack, Tilman Heinrich, T. Eggermann   +6 more
semanticscholar   +1 more source

Whole exome sequencing to identify genetic causes of short stature [PDF]

, 2014
BACKGROUND/AIMS: Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified.
Dauber, Andrew, Guo, Michael H., Hirschhorn, Joel N., Miller, Timothy C., Moon, Jennifer E., Shen, Yiping, Walvoord, Emily C.   +6 more
core   +1 more source