Results 31 to 40 of about 696,921 (266)

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Pengembangan Sistem Authoring Tools untuk Publikasi Jurnal Ilmiah Berbasis Web

Jurnal Sarjana Teknik Informatika, 2019
Jurnal ilmiah merupakan salah satu jenis jurnal akademik dimana penulis mempublikasian artikel ilmiah. Untuk memastikan kualitas ilmiah pada artikel yang diterbitkan, suatu artikel bisa diteliti oleh rekan-rekan sejawatnya dan direvisi oleh penulis, hal ...
Didit Setia Budi, Ardiansyah Ardiansyah
doaj   +1 more source

Rancang Bangun Sistem Presensi Menggunakan NFC Reader Berbasis ESP32

Jurnal Teknik Elektro Indonesia, 2023
Presensi merupakan sistem yang digunakan untuk merekap data kehadiran disuatu perusahaan untuk mengetahui tingkat kedisiplinan dan kehadiran dari anggota di suatu instansi/perusahaan.
Yusuf Faisal, Hastuti Hastuti
doaj   +1 more source

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next‐Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho, Emmanuella Amoako, Nihad Salifu, Lily Gloria Tagoe, Yaw Bediako, Michelle Hermiston, Catherine Segbefia   +6 more
wiley   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

E-book – śmierć książki czy jej nowe życie? Historia, technologia, poezja, rynek

Annales Universitatis Paedagogicae Cracoviensis. Studia de Cultura, 2016
The purpose of the article is to present the subject of electronic literature’s place in modern world, specifics of this form of publishing and opportunities it carries. The history of e-books formation from 1971 to present day is outlined – changes that
Mateusz Nizianty, Anna Piechota
doaj  

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

A leitura, a produção de sentidos e o processo inferencial Reading, sense production and the inferential process

Psicologia em Estudo, 2004
Na produção de sentidos de textos, o leitor desempenha papel ativo, sendo as inferências um relevante processo cognitivo nesta atividade. Este artigo defende o argumento de que a compreensão da leitura não é orientada apenas pelas marcas gráficas do ...
Sandra Patrícia Ataíde Ferreira, Maria da Graça Bompastor Borges Dias   +1 more
doaj   +1 more source

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source