Results 51 to 60 of about 945,528 (300)

Impact of template backbone heterogeneity on RNA polymerase II transcription. [PDF]

, 2014
Variations in the sugar component (ribose or deoxyribose) and the nature of the phosphodiester linkage (3'-5' or 2'-5' orientation) have been a challenge for genetic information transfer from the very beginning of evolution.
Chong, Jenny, Huang, Xuhui, Wang, Dong, Wang, Wei, Xu, Liang, Zhang, Lu   +5 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

Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]

, 2001
Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Clements JA, Crouch E, deMello DE, Dirksen U, Doyle IR, Fisher JH, Floros J, Glasser SW, Green D, Hawgood S, Ikegami M, Ikegami M, Ikegami M, Kitamura T, Kresch MJ, Madan T, Mahut B, Mason RJ, Myrianthopoulos NC, Nogee LM, Pilot-Matias TJ, Power JHT, Prakash UBS, Reed JA, Robertson B, Rosen SH, Stoll BJ, Tredano M, Vorbroker DK, Wang J-Y   +29 more
core   +1 more source

Early-Onset Epileptic Encephalopathy with Phospholipase C Beta 1 Deficiency

Pediatric Neurology Briefs, 2010
The clinical presentation and evolution of epileptic encephalopathy associated with a loss-of-function mutation in the phospholipase C-b 1 gene are reported in a male infant with infantile spasms treated at the University of Birmingham School of Medicine,
J Gordon Millichap
doaj   +1 more source

Dementia-related genetic variants in an Italian population of early-onset Alzheimer’s disease

Frontiers in Aging Neuroscience, 2022
Early-onset Alzheimer’s disease (EOAD) is the most common form of early-onset dementia. Although three major genes have been identified as causative, the genetic contribution to the disease remains unsolved in many patients.
Anna Bartoletti-Stella, Martina Tarozzi, Giacomo Mengozzi, Francesca Asirelli, Laura Brancaleoni, Laura Brancaleoni, Nicola Mometto, Michelangelo Stanzani-Maserati, Simone Baiardi, Simone Baiardi, Simona Linarello, Marco Spallazzi, Roberta Pantieri, Elisa Ferriani, Paolo Caffarra, Rocco Liguori, Rocco Liguori, Piero Parchi, Piero Parchi, Sabina Capellari, Sabina Capellari   +20 more
doaj   +1 more source

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider, Amelie Alfert, Marc Hotfilder, Birgit Burkardt, Marcel te Vrugt   +4 more
wiley   +1 more source

Feline Morbillivirus Infection in Domestic Cats: What Have We Learned So Far?

Viruses, 2021
Feline morbillivirus (FeMV) was identified for the first time in stray cats in 2012 in Hong Kong and, since its discovery, it was reported in domestic cats worldwide.
Eliana De Luca, Giuseppe Andrea Sautto, Paolo Emidio Crisi, Alessio Lorusso   +3 more
doaj   +1 more source

Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. [PDF]

, 2015
Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder characterized by ectopic mineralization, is caused by mutations in the ABCC6 gene. We examined clinically 29 Chinese PXE patients from unrelated families, so far the largest cohort of Asian ...
Jiang, Qiujie, Jin, Liang, Shao, Changxia, Uitto, Jouni, Wang, Gang, Wu, Zhengsheng, Yang, Luting, Zhou, Yong   +7 more
core   +3 more sources

Clinical and Biological Features of Response in Resistant Neuroblastoma to 131I‐Metaiodobenzylguanidine Radiotherapy in the Anti‐GD2 Immunotherapy Era

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background 131I‐metaiodobenzylguanidine (131I‐MIBG) radiotherapy is a key treatment for relapsed and refractory (R/R) neuroblastoma (NB). Patients with R/R disease treated in the modern era are increasingly exposed to anti‐GD2 immunotherapy, which exerts selective pressure and may modify both tumor cell state and microenvironment.
Benjamin J. Lerman, Katherine K. Matthay, Fabienne Hollinger, Catriona Black, Ann A. Lazar, Miguel Pampaloni, Steven G. DuBois, Kieuhoa T. Vo   +7 more
wiley   +1 more source

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations. [PDF]

, 2018
Primary open angle glaucoma (POAG) is a complex disease with a major genetic contribution. Its prevalence varies greatly among ethnic groups, and is up to five times more frequent in black African populations compared to Europeans.
Akafo, Stephen K, Allingham, R Rand, Ashaye, Adeyinka O, Belbin, Gillian M, Bonnemaijer, Pieter WM, Bottinger, Erwin P, Cook, Colin, Eyes of Africa Genetics Consortium, GIGA Study Group, Girkin, Christopher A, Hammond, Christopher J, Hassan, Hassan G, Hauser, Michael A, Hysi, Pirro G, Iglesias, Adriana I, Kenny, Eimear E, Klaver, Caroline CW, Lemij, Hans G, Li, Zheng, Loos, Ruth JF, Meester-Smoor, Magda A, Nadkarni, Girish N, Nag, Abhishek, NEIGHBORHOOD Consortium, Ng, Maggie CY, Rotter, Jerome I, Sanyiwa, Anna J, Schurmann, Claudia, Simcoe, Mark, Taylor, Kent D, Thiadens, Alberta AHJ, van de Laar, Suzanne, van Duijn, Cornelia M, Weinreb, Robert N, Wiggs, Janey L, Wiliams, Susan EI, Zangwill, Linda M   +36 more
core