Results 131 to 140 of about 1,562,582 (397)

Chromosome studies of Brazilian vespertilionids Lasiurus cinereus and Lasiurus ega (Mammalia, Chiroptera)

Iheringia: Série Zoologia, 2004
Cytogenetical studies based on conventional coloration by Giemsa, C-banding and Ag-NOR were performed on 2 species of bats from the vespertilionid family: Lasiurus cinereus (Beauvois, 1796) and Lasiurus ega (Gervais, 1856). The 2n was 28 and FN was 48 in
Sandra Regina de Carvalho Marchesin, Eliana Morielle Versute   +1 more
doaj   +1 more source

Reduced SKP1 and CUL1 expression underlies increases in Cyclin E1 and chromosome instability in cellular precursors of high-grade serous ovarian cancer [PDF]

, 2021
Chloe C. Lepage, Michaela C. L. Palmer, Ally C. Farrell, Nicole M. Neudorf, Zelda Lichtensztejn, Mark W. Nachtigal, Kirk J. McManus   +6 more
openalex   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Large chromosomal structural variations between M. acuminata and M balbisiana and their consequences on chromosome recombination and segregation in a AAAB polyploidy context [PDF]

, 2017
Many banana cultivars are triploid interspecific hybrids between M. acuminata (Genome A, 2n=22) and M. balbisiana (Genome B, 2n=22). They included the important group of Plantain cooking bananas classified as AAB.
Baurens, Franc-Christophe, D'Hont, Angélique, Habas, Rémy, Martin, Guillaume, Njembele, J. Célestin, Ricci, Sébastien, Rouard, Mathieu, Salmon, Frédéric   +7 more
core  

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

ARKS: chromosome-scale scaffolding of human genome drafts with linked read kmers [PDF]

, 2018
Lauren Coombe, Jessica Zhang, Benjamin P. Vandervalk, Justin Chu, Shaun D. Jackman, İnanç Birol, René L. Warren   +6 more
openalex   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

Chromosomal characterization of Hyla bischoffi and Hyla guentheri (Anura, Hylidae)

Phyllomedusa: Journal of Herpetology, 2004
Hyla bischoffi and H. guentheri share some morphological and call characters with the H. pulchella and H. polytaenia groups. The inclusion of these two species in one of these two groups is still controversial. This study showed that both species have 2n
Simone C. Raber, Klélia A. Carvalho, Paulo C. A. Garcia, Giovanni Vinciprova, Shirlei M. Recco-Pimentel   +4 more
doaj  

The Ftx Noncoding Locus Controls X Chromosome Inactivation Independently of Its RNA Products [PDF]

, 2018
Giulia Furlan, Nancy Gutierrez Hernandez, Christophe Huret, Rafael Galupa, Joke G. van Bemmel, Antonio Romito, Édith Heard, Céline Morey, Claire Rougeulle   +8 more
openalex   +1 more source

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno, Giovanni Ermanis, Christian Lettieri, Andrea Bernardini, Gaia Pellitteri, Enrico Belgrado, Elena Betto, Gian Luigi Gigli, David De Monte, Marco Domenico Scanni, Marco Mucchiut, Giuseppe Damante, Mariarosaria Valente, Francesco Janes   +13 more
wiley   +1 more source