Results 121 to 130 of about 130,329 (268)

Single‐Cell Morphomechanics of Prostate Cancer‐Associated Fibroblasts Identifies Distinct Features Associated with Patient Outcome

open access: yesAdvanced Science, EarlyView.
Cancer‐associated fibroblasts (CAFs) in prostate tumors exhibit distinct morphomechanical traits vs normal fibroblasts, including greater stiffness and volume, more elongated stress fibres, and larger and more elongated nuclei. These features, quantified through imaging and real‐time deformability cytometry, correlate with patient outcomes and can be ...
Antje Garside   +11 more
wiley   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

open access: yesAmerican Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova   +10 more
wiley   +1 more source

Genome-wide identification and characterization of the Lateral Organ Boundaries Domain (LBD) gene family in nine Rosaceae species and expression pattern in Prunus mume

open access: yesOrnamental Plant Research
Transcription factors (TFs) encoded by the lateral organ boundaries domain (LBD) gene family are known to control many plant-specific developmental processes. However, the comparative analysis of the LBD gene family in Rosaceae species and its expression
Weichao Liu   +7 more
doaj   +1 more source

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko   +3 more
wiley   +1 more source

A novel mitochondrial genome architecture in thrips (Insecta: Thysanoptera): extreme size asymmetry among chromosomes and possible recent control region duplication [PDF]

open access: gold, 2015
Aaron M. Dickey   +6 more
openalex   +1 more source

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos   +14 more
wiley   +1 more source

Genetic basis of cohesinopathies

open access: yesThe Application of Clinical Genetics, 2013
José L Barbero Cellular and Molecular Biology Department, Biological Research Center, Madrid, Spain Abstract: Cohesin is a ring-form multifunctional protein complex, which was discovered during a search for molecules that keep sister chromatids ...
Barbero JL
doaj  

Schizophrenia Genetics Modulates Clinical Depressive Features

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti   +13 more
wiley   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

The "Dryopteris dilatata complex in Macaronesia and the Iberian Peninsula [PDF]

open access: yes, 1983
Diploid and tetraploid species of the Dryopteris dilatata complex are found in Spain and Portugal. In an attempt to determine the relationships between species the cytology of both wild and synthetised hybrids has been investigated, and the results ...
Gibby, M.
core   +2 more sources

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