Results 41 to 50 of about 5,499,417 (372)
Molecular Genetics of Intracranial Meningiomas with Emphasis on Canonical Wnt Signalling. [PDF]
, 2016 Research over the last decade recognized the importance of novel molecular pathways in pathogenesis of intracranial meningiomas. In this review, we focus on human brain tumours meningiomas and the involvement of Wnt signalling pathway genes and proteins ...
Kafka, Anja +2 more
core +2 more sources
British Journal of Ophthalmology, 2019 Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous group of inherited retinal diseases characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss.
J. Gill +4 more
semanticscholar +1 more source
Molecular Population Genetics [PDF]
Genetics, 2017 AbstractMolecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics.
Sònia Casillas, Antonio Barbadilla
openaire +2 more sources
YAP regulates alveolar epithelial cell differentiation and AGER via NFIB/KLF5/NKX2-1
iScience, 2021 Summary: Ventilation is dependent upon pulmonary alveoli lined by two major epithelial cell types, alveolar type-1 (AT1) and 2 (AT2) cells. AT1 cells mediate gas exchange while AT2 cells synthesize and secrete pulmonary surfactants and serve as ...
Jason J. Gokey +6 more
doaj +1 more source
The molecular genetics of sideroblastic anemia.
Blood, 2019 The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders defined by pathological iron accumulation in the mitochondria of erythroid precursors.
S. Ducamp, M. Fleming
semanticscholar +1 more source
ISSUES WITH GENE CONCEPT [PDF]
Filozofia i Nauka, 2019 This article provides an initial analysis, from a historical standpoint, of the problematic nature of conceptualizations of the notion of gene in molecular genetics.
Aleksander A. Ziemny
doaj
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]
, 1996 Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan +14 more
core +1 more source
The Molecular Genetics of Myeloproliferative Neoplasms.
Cold Spring Harbor Perspectives in Medicine, 2019 Activated JAK-STAT signaling is central to the pathogenesis of BCR-ABL-negative myeloproliferative neoplasms (MPNs) and occurs as a result of MPN phenotypic driver mutations in JAK2, CALR, or MPL The spectrum of concomitant somatic mutations in other ...
A. Marneth, A. Mullally
semanticscholar +1 more source
FoxO1 signaling in B cell malignancies and its therapeutic targeting
FEBS Letters, EarlyView.FoxO1 has context‐specific tumor suppressor or oncogenic character in myeloid and B cell malignancies. This includes tumor‐promoting properties such as stemness maintenance and DNA damage tolerance in acute leukemias, or regulation of cell proliferation and survival, or migration in mature B cell malignancies.
Krystof Hlavac +3 more
wiley +1 more source
Germline polymorphisms and alternative splicing of human immunoglobulin light chain genes
iScience, 2021 Summary: Inference of germline polymorphisms in immunoglobulin genes from B cell receptor repertoires is complicated by somatic hypermutations, sequencing/PCR errors, and by varying length of reference alleles.
Ivana Mikocziova +5 more
doaj +1 more source