Results 1 to 10 of about 2,506 (160)

Influence of sodium Bituminosulfonate and Doxycycline on signal molecules relevant for rosacea symptoms [PDF]

Scientific Reports
Rosacea is treated among others by doxycycline and sodium bituminosulfonate dry substance (SBDS). We addressed the molecular mechanism(s) underlying the therapeutic benefit of SBDS and doxycycline.
Ann Sophie Rein, Marina Henke, Sophie Brünner, Sonja Luckhardt, Anna-Lena Zodel, Annette Sethmann, Susanne Schiffmann   +6 more
doaj   +2 more sources

Effects of 450 MeV Kr Swift Heavy Ion Irradiation on GaN-Based Terahertz Schottky Barrier Diodes [PDF]

Micromachines
GaN-based terahertz (THz) Schottky barrier diodes (SBDs) are critical components for achieving high-power performance in THz frequency multipliers. However, the space applications of GaN-based THz SBDs are significantly constrained due to insufficient ...
Yan Ren, Yongtao Yu, Shengze Zhou, Chao Pang, Yinle Li, Zhifeng Lei, Hong Zhang, Zhihong Feng, Xubo Song, Honghui Liu, Yongli Lou, Yiqiang Ni   +11 more
doaj   +2 more sources

SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention

PLoS Genetics, 2017
Ribosomopathies are a family of inherited disorders caused by mutations in genes necessary for ribosomal function. Shwachman-Diamond Bodian Syndrome (SDS) is an autosomal recessive disease caused, in most patients, by mutations of the SBDS gene.
Piera Calamita, Annarita Miluzio, Elisa Pesce   +2 more
exaly   +3 more sources

Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome [PDF]

The Journal of Clinical Investigation
Shwachman-Diamond syndrome (SDS) is characterized by neutropenia, exocrine pancreatic insufficiency, and bony abnormalities with an increased risk of myeloid neoplasia.
Usua Oyarbide, Valentino Bezzerri, Morgan Staton, Christian Boni, Arish Shah, Marco Cipolli, Eliezer Calo, Seth J. Corey   +7 more
doaj   +2 more sources

Cone Beam Computed Tomography Evaluation of Stafne Bone Defect: A Case Series and Review of Radiographic Features [PDF]

Case Reports in Dentistry
Conclusions: CBCT proved to be essential in accurately diagnosing SBDs in every instance, particularly when it came to spotting unusual signs like anterior and bilateral lesions.
Ibrahim Yamany, Hanadi Sabban
doaj   +2 more sources

Ataluren improves hematopoietic and pancreatic disorders in Shwachman-Diamond syndrome patients: a compassionate program case-series [PDF]

Nature Communications
Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutropenia, and a high risk of myeloid malignancy. Most patients with SDS harbor nonsense mutations in Shwachman-Bodian-Diamond syndrome gene (SBDS), which encodes a
Valentino Bezzerri, Anna Pegoraro, Anca Manuela Hristodor, Genevieve M. Crane, Ilaria Meneghelli, Cecilia Brignole, Christian Boni, Elena Baldisseri, Antonio Vella, Giacomo Menichetti, Roberto Valli, Giovanni Porta, Giovanna D’Amico, Cristina Tecchio, Alice Parisi, Giuseppe Lippi, Angela Mercuri, Simone Cesaro, Seth J. Corey, Marco Cipolli   +19 more
doaj   +2 more sources

The Shwachman-Diamond SBDS protein localizes to the nucleolus

Blood, 2005
AbstractShwachman-Diamond syndrome (SDS) is an autosomal recessively inherited disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. The gene for this syndrome, SBDS, encodes a highly conserved novel protein. We characterized Shwachman-Bodian-Diamond syndrome (SBDS) protein expression and intracellular localization in 7 ...
Akiko Shimamura
exaly   +4 more sources

Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. [PDF]

PLoS ONE, 2011
Shwachman-Diamond Syndrome (SDS) is a rare inherited disease caused by mutations in the SBDS gene. Hematopoietic defects, exocrine pancreas dysfunction and short stature are the most prominent clinical features.
Claudia Orelio, Renée M van der Sluis, Paul Verkuijlen, Micha Nethe, Peter L Hordijk, Timo K van den Berg, Taco W Kuijpers   +6 more
doaj   +1 more source

SBDS expression and localization at the mitotic spindle in human myeloid progenitors. [PDF]

PLoS ONE, 2009
BACKGROUND: Shwachman-Diamond Syndrome (SDS) is a hereditary disease caused by mutations in the SBDS gene. SDS is clinically characterized by pancreatic insufficiency, skeletal abnormalities and bone marrow dysfunction.
Claudia Orelio, Paul Verkuijlen, Judy Geissler, Timo K van den Berg, Taco W Kuijpers   +4 more
doaj   +1 more source

Opportunities and challenges of self-binding directives: an interview study with mental health service users and professionals in the Netherlands

BMC Medical Ethics, 2023
Background Self-binding directives (SBDs) are psychiatric advance directives that include the possibility for service users to consent in advance to compulsory care in future mental health crises.
Laura van Melle, Lia van der Ham, Yolande Voskes, Guy Widdershoven, Matthé Scholten   +4 more
doaj   +1 more source