Results 41 to 50 of about 3,708 (168)

Fragmentation of Long Reads Enables Reliable Mitogenome Assembly From Whole‐Genome Amplification Data With Pervasive Palindromic Reads

Molecular Ecology Resources, Volume 26, Issue 5, July 2026.
ABSTRACT Whole genome amplification (WGA), and in particular multiple displacement amplification (MDA), has become a key technique for genomic sequencing of microscopic organisms, yet it introduces artefacts such as palindromic (inverted chimeric) reads that may compromise downstream analyses.
Matteo Vecchi, Bartłomiej Surmacz, Ingemar K. Jönsson, Daniel Stec   +3 more
wiley   +1 more source

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, Volume 99, Issue 6, Page 1502-1515, June 2026.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source

The genetic variability of the Podolica cattle breed from the Gargano area. Preliminary results

Italian Journal of Animal Science, 2010
The Podolica cattle breed is autochthonous of Southern Italy and denoted by its particular rusticity. This study presents the preliminary results of the genetic characterization of the Podolica breed using DNA STR markers.
Dario Cianci, Marzia Albenzio, Roberta Ciampolini, Agostino Sevi, Elena Ciani, Francesca d’Angelo d’Angelo   +5 more
doaj   +1 more source

Multilocus sequence typing of the invasive pest Halyomorpha halys (Hemiptera: Pentatomidae) and associated endosymbiont reveals unexplored diversity

Insect Science, Volume 33, Issue 3, Page 1187-1205, June 2026.
A multilocus sequence typing approach is proposed to explore Halymorpha halys genetic diversity, taking into consideration both insect nuclear markers and markers from the gut symbiont “Candidatus Pantoa carbekii.” Increased information was revealed regarding the number of distinct holobiont haplotypes in native and invasive populations of the pest ...
Matteo Dho, Matteo Montagna, Chenxi Liu, Giulia Magoga, Giobbe Forni, Alberto Alma, Elena Gonella   +6 more
wiley   +1 more source

Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis

Revista Brasileira de Hematologia e Hemoterapia, 2015
This review discusses hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, one of the most common hemoglobin variants worldwide. It is derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267) prevalent in the Punjab ...
Lidiane de Souza Torres, Jéssika Viviani Okumura, Danilo Grünig Humberto da Silva, Claudia Regina Bonini-Domingos   +3 more
doaj   +1 more source

Engineered GM1 Intersects Between Mitochondrial and Synaptic Pathways to Ameliorate ALS Pathology

Advanced Science, Volume 13, Issue 20, 9 April 2026.
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease driven by genetic and molecular disruptions affecting energy balance, protein homeostasis, and stress responses in nerve cells. Studies using human and rodent models identified convergent defects in mitochondria and synaptic function.
Federica Pilotto, Tristan Dellazizzo Toth, Silvano Bond, Alexander Schmitz, Rim Diab, Sara Y. Ngo Tenlep, Brian Mooney, Silvia Erni, Martina Schobesberger, Olivier Scheidegger, Camille Peitsch, Smita Saxena   +11 more
wiley   +1 more source

The genetic variability analysis of the Amiata donkey breed by molecular data

Italian Journal of Animal Science, 2010
This study presents the results of the genetic characterization of the Amiata donkey breed using STR markers. A total of 18 microsatellite loci were analysed in 50 unrelated individuals reared in Tuscany and in Lazio (34 and 16 animals respectively). The
B. De Sanctis, M. Tancredi, E. Ciani, E. Mazzanti, F. Cecchi, R. Ciampolini   +5 more
doaj   +1 more source

Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population

International Journal of Molecular Sciences, 2022
Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease due to mutations in the ddc gene producing AADC, a homodimeric pyridoxal 5′-phosphate-dependent enzyme. The disorder is often fatal in the first decade and is characterized by profound motor impairments and developmental delay.
Bisello, Giovanni, Bertoldi, Mariarita
openaire   +3 more sources

Climatic Variables and Virulence May Contribute to the Population Dynamics of Pyricularia oryzae at Local Scale

MicrobiologyOpen, Volume 15, Issue 1, February 2026.
The Italian population structure of P. oryzae was analyzed using SSR genotyping to identify possible determinants shaping its local genetic diversity, including spatial, temporal, environmental, and biological factors. ABSTRACT Rice blast disease, caused by Pyricularia oryzae Cavara, is the most threatening rice pathogen in Italy.
Simone Bosco, Fabiano Sillo, Paola Ruffa, Lisa Bergonzi, Daniele Tenni, Pamela Abbruscato, Daniela Torello Marinoni, Marco Romani, Davide Spadaro   +8 more
wiley   +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