Results 81 to 90 of about 8,590 (232)

Restricted gene flow and genetic drift in recently fragmented populations of an endangered steppe bird [PDF]

, 2012
Identifying the genetic processes derived from habitat fragmentation is critical for the conservation of endangered species. We conducted an integrated analysis of genetic patterns in the endangered Dupont’s lark (Chersophilus duponti), a circum ...
Godoy, José A., Méndez, María, Tella, José Luis   +2 more
core   +1 more source

Targeted Editing and Phenotypic Profiling of CmOFP13 Mutants Reveal Its Role in Melon Fruit Morphogenesis

Physiologia Plantarum, Volume 177, Issue 6, November/December 2025.
ABSTRACT The melon fruit shape is a trait that influences storage as well as consumer preference. Fruit shape is known to be regulated by factors such as Ovate Family Proteins (OFPs), Tonneau Recruiting Motif proteins (TRMs), IQ67 domain proteins (IQDs) and plant hormones.
Carlos Mayobre, María José Gonzalo, Montserrat Vergés, Guillem Guardia‐Bersabé, Dídac Jiménez‐Sánchez, Antonio José Monforte, Jordi Garcia‐Mas, Marta Pujol   +7 more
wiley   +1 more source

High phenotypic variability in Gerstmann-Sträussler-Scheinker disease

Arquivos de Neuro-Psiquiatria
Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu.
Jerusa Smid, Adalberto Studart Neto, Michele Christine Landemberger, Cleiton Fagundes Machado, Paulo Ribeiro Nóbrega, Nathalie Henriques Silva Canedo, Rodrigo Rizek Schultz, Michel Satya Naslavsky, Sérgio Rosemberg, Fernando Kok, Leila Chimelli, Vilma Regina Martins, Ricardo Nitrini   +12 more
doaj   +1 more source

AFLP estimation of the outcrossing rate of Spondias tuberosa (Anacardiaceae), an endemic species to the Brazilian semiarid region Una estimación AFLP de la tasa de fecundación cruzada de Spondias tuberosa (Anacardiaceae), una especie endémica de la región semiárida de Brasil

Revista de Biología Tropical, 2013
The umbu tree (Spondias tuberosa) is one of the most important endemic species to the Brazilian tropical semiarid region. The umbu tree has edible fruits with a peculiar flavor that are consumed in natura or in a semi-industrialized form, such as jams ...
Carlos Antonio Fernandes Santos, Renata Natália Cândido de Souza Gama   +1 more
doaj  

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

Orphanet Journal of Rare Diseases, 2010
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, and bone pain; hypophosphatemia is believed to
Pérez-Menéndez Teresa M, Coto Eliecer, Gil-Peña Helena, Mejia-Gaviria Natalia, Santos Fernando   +4 more
doaj   +1 more source

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation

Human Molecular Genetics, 2014
Primary Hyperoxaluria type I (PH1) is a rare disease due to the deficit of peroxisomal alanine:glyoxylate aminotransferase (AGT), a homodimeric pyridoxal-5′-phosphate (PLP) enzyme present in humans as major (Ma) and minor (Mi) allele.
R. Montioli, A. Roncador, Elisa Oppici, G. Mandrile, D. Giachino, B. Cellini, C. Borri Voltattorni   +6 more
semanticscholar   +1 more source

A phosphoserine phosphatase variant present in the brain of Alzheimer's disease patients favors nuclear mistargeting

The FEBS Journal, Volume 292, Issue 18, Page 4955-4974, September 2025.
l‐serine levels in the human brain are maintained by the phosphorylated pathway, a three‐step process catalyzed by phosphoglycerate dehydrogenase (PHGDH), phosphoserine aminotransferase (PSAT) and phosphoserine phosphatase (PSP). These enzymes assemble in a metabolon called the serinosome. The double R27S/D32G PSP variant was identified in the brain of
Silvia Sacchi, Valeria Buoli Comani, Ivan Arisi, Francesco Marchesani, Valentina Rabattoni, Omar De Bei, Zoraide Motta, Alessio Peracchi, Stefano Bruno, Loredano Pollegioni, Barbara Campanini   +10 more
wiley   +1 more source

Evaluation of genetic diversity in bread wheat cultivars (Triticum aestivum L.) using morpho-physiological traits and SSR markers [PDF]

مجله بیوتکنولوژی کشاورزی, 2014
Genetic diversity is a requirement for success in the breeding programs. In order to evaluate genetic diversity of 40 bread wheat genotypes through morpho-physiological traits and SSR markers, wheat genotypes were cultivated in Shahid Bahonar university ...
Maryam Nazari, Rouhollah Abdolshahi
doaj   +1 more source

Chromosomal Inversion Associated With Diet Differences in Common Quails Sharing Wintering Grounds

Ecology and Evolution, Volume 15, Issue 8, August 2025.
A large chromosomal inversion in common quails (Coturnix coturnix) is associated with phenotypic traits. In a wintering population in southern Spain, we found all three karyotypes coexisting but showing differences in migratory behavior and diet, as exemplified by the isotopic signature.
Celia Vinagre‐Izquierdo, Ines Sanchez‐Donoso, Jennifer A. Leonard, José Domingo Rodríguez‐Teijeiro, Carles Vilà   +4 more
wiley   +1 more source

Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling.

PLoS ONE
Long QT Syndrome type 8 (LQT8) is a cardiac arrhythmic disorder associated with Timothy Syndrome, stemming from mutations in the CACNA1C gene, particularly the G406R mutation.
Simone Scacchi, Luca F Pavarino, Andrea Mazzanti, Alessandro Trancuccio, Silvia G Priori, Piero Colli Franzone   +5 more
doaj   +1 more source