Results 51 to 60 of about 1,866,513 (309)

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts [PDF]

, 2017
Acknowledgements We sincerely thank the patients and family members who participated in this study. We would also like to thank Stefan Esher, Umeå University, for help with genealogy, and Anna Westerlund for excellent technical assistance.
Ameur, Adam, Coxon, Fraser P., Dahl, Niklas, Hallmans, Göran, Helfrich, Miep H., Henning, Petra, Kellgren, Therese G., Klar, Joakim, Lerner, Ulf H., Lönnerholm, Torsten, McDermott, Emma, Rydén, Patrik, Sandström, Per-Erik, Stattin, Eva-Lena, Stecksen-Blicks, Christina, Wikström, Johan   +15 more
core   +1 more source

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel, Patricia Pastura, Joshua P. Scallan, Timothy D. Le Cras   +3 more
wiley   +1 more source

Development of somatic mutation signatures for risk stratification and prognosis in lung and colorectal adenocarcinomas

BMC Medical Genomics, 2019
Background Prognostic signatures are vital to precision medicine. However, development of somatic mutation prognostic signatures for cancers remains a challenge.
Mark Menor, Yong Zhu, Yu Wang, Jicai Zhang, Bin Jiang, Youping Deng   +5 more
doaj   +1 more source

A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome [PDF]

, 2014
<b>Background:</b> Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.<p></p> ...
Donaldson, Malcolm, Hermanns, Pia, Jones, Jez, Mansor, Mohamed, Pohlenz, Joachim, Schulga, John, Shepherd, Scott   +6 more
core   +1 more source

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter, Jens‐Peter Schenk, Jenny Wegert, Manfred Gessler, Leo Kager, Stefan Wagenpfeil, Marina Müller, Jean‐Michel Wolff, Joerg Fuchs, Steven W. Warmann, Clemens‐Magnus Meier, Jochen Hubertus, Christian Rübe, Christian Vokuhl, Patrick Melchior, Lena Tschirner, Norbert Graf, Rhoikos Furtwängler   +17 more
wiley   +1 more source

LDLR and ApoB are Major Genetic Causes of Autosomal Dominant Hypercholesterolemia in a Taiwanese Population

Journal of the Formosan Medical Association, 2007
Autosomal dominant hypercholesterolemia (ADH) is an autosomal dominant inherited disease characterized by an increase in low-density lipoprotein cholesterol levels and premature coronary heart disease, which can be caused by mutations in genes encoding ...
Kai-Chien Yang, Yi-Ning Su, Jin-Yuh Shew, Kai-Ying Yang, Wei-Kung Tseng, Chau-Chung Wu, Yuan-Teh Lee   +6 more
doaj   +1 more source

Analysis of gene mutation in plant cell wall by dielectric relaxation [PDF]

, 2012
Arabidopsis Thaliana is a plant composed mainly of cellulose and lignin. Geneticists need techniques able to make differences at the molecular level between modified plants (DML6, CAD C/D) and non-modified ones.
Dantras, Eric, Grima-Pettenati, Jacqueline, Lacabanne, Colette, Roig, Frédéric   +3 more
core   +3 more sources

An Integrative Analysis Reveals the Underlying Association Between CTNNB1 Mutation and Immunotherapy in Hepatocellular Carcinoma

Frontiers in Oncology, 2020
Background: Tumor mutational burden (TMB) was verified to be closely associated with immune checkpoint inhibitors, but it is unclear whether gene mutation has an effect on immunotherapy of hepatocellular carcinoma (HCC).
Zhuomao Mo, Yongdan Wang, Zhirui Cao, Pan Li, Shijun Zhang   +4 more
doaj   +1 more source

Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome [PDF]

Korean Journal of Pediatrics, 2016
Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes.
Do Hee Ahn, Jung Hee Rho, Hann Tchah, In-Sang Jeon   +3 more
doaj   +1 more source

Revealing the structure of land plant photosystem II: the journey from negative‐stain EM to cryo‐EM

FEBS Letters, EarlyView.
Advances in cryo‐EM have revealed the detailed structure of Photosystem II, a key protein complex driving photosynthesis. This review traces the journey from early low‐resolution images to high‐resolution models, highlighting how these discoveries deepen our understanding of light harvesting and energy conversion in plants.
Roman Kouřil
wiley   +1 more source