Results 231 to 240 of about 270,897 (278)

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source

Domination Versus Sisterhoods in the Blood Microbiota of Migrating Birds: Patterns of Within‐ and Between‐Individual Blood Parasite Diversity Revealed Through Metabarcoding

Integrative Zoology, EarlyView.
Avian haemosporidian blood parasites are typically identified through Sanger sequencing of a partial cytochrome b fragment, the MalAvi barcoding region. Next‐generation sequencing is seldom used for avian blood parasite identification; this study demonstrates a higher detection rate of co‐infections via metabarcoding and its possible implications ...
Peter Pibaque, Gaia Porporato, Simone Cescutti, Alanis Cruz‐Flores, Tobias Busche, Anika Winker, Tim Maximilian Rapp, Patrick Bergkamp, Anna Doneva, Nayden Chakarov   +9 more
wiley   +1 more source

Comprehensive analysis of the mitochondrial genome of Rehmannia glutinosa: insights into repeat-mediated recombinations and RNA editing-induced stop codon acquisition. [PDF]

Front Plant Sci
Zeng T, Ni Y, Li J, Chen H, Lu Q, Jiang M, Xu L, Liu C, Xiao P.   +8 more
europepmc   +1 more source

Decoding Dual Regulatory Layers: Integrating Differential Expression and Alternative Splicing Dynamics in the Evolution of Laryngeal Echolocation Across Chiropteran Lineages

Integrative Zoology, EarlyView.
We integrated short‐read and long‐read RNA‐seq data from cochlear tissues of echolocating and non‐echolocating bats to disentangle transcriptional and post‐transcriptional regulation. Echolocating bats showed neural‐function enrichment among differentially expressed genes, while alternatively spliced genes were linked to epigenetic regulation. Overlaps
Jianyu Wu, Daoyuan Hu, Min Chen, Xiuguang Mao   +3 more
wiley   +1 more source

Transcriptomics Unveil Dsx1 as a Critical Regulator in Sexual Dimorphism of Crustaceans

Integrative Zoology, EarlyView.
Sexually dimorphic traits are involved in reproductive competition and are shaped by sex‐biased gene expression. This study identifies Dsx1 as a key male‐biased gene in Morinoia aosen and demonstrates through RNA interference that its disruption feminizes male‐specific T3 leg structures.
Yan Tong, Wenpei Xin, Zeyu Liu, Yami Zheng, Mengyi Huang, Hongguang Liu, Decai Lu, Wei Peng, Zhonge Hou   +8 more
wiley   +1 more source

Microarrayed Allergen Molecules Distinguish IgE Sensitisation to Blomia tropicalis and Dermatophagoides pteronyssinus

Allergy, EarlyView.
This study established a microarray containing a representative panel of purified Blo t and Der p allergens for the identification of patients sensitised to Blo t and/or Der p. Results indicate that the microarray based on Blo t and Der p allergens is a useful tool for the identification of Blo t‐ and/or Der p‐sensitised patients. The microarray may be
Nishelle Dsouza, Siratcha Phanthong, Huey‐Jy Huang, Milena Weber, Eszter Sarzsinszky, Petra Zieglmayer, Gabrielle Pauli, Margarete Focke‐Tejkl, Mikhail Tulaev, Nikolina Todorovic, Walter Keller, Thomas Schlederer, Luis Caraballo, Anchalee Tungtrongchitr, Rudolf Valenta, Pongsakorn Tantilipikorn, Susanne Vrtala   +16 more
wiley   +1 more source

Cryptorchidism: Novel genetic insights into CCDC149 mutations

Andrology, EarlyView.
Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du, Shan Xu, Lei Yang, Yan Ye, Yuhan Wu, Ziyun Xiao, Xiuqing Dong, Wenliang Yao, Hua Li   +8 more
wiley   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants

British Journal of Haematology, EarlyView.
Summary Constitutional pathogenic variants in DDX41 predispose to myelodysplasia and acute myeloid leukaemia. Acquisition of subsequent somatic hits in the second allele is frequent, with notable recurrent variants at key hotspots. Sequencing of Deoxyribonucleic acid from blood/marrow of 239 patients with suspected/confirmed haematological malignancies
Andrew George, Elisabeth Rolf, Monika Domeradzka, Sara Ribeiro, Brittany Mills, April Hallett, Suzanne Macmahon, Paula Proszek, Ridwan Shaikh, Lina Yuan, Michael Hubank, Mikel Valganon Petrizan, Terri P. McVeigh, Jamshid S. Khorashad   +13 more
wiley   +1 more source

Gene Dosage of F5 c.3481C>T Stop-Codon (p.R1161Ter) Switches the Clinical Phenotype from Severe Thrombosis to Recurrent Haemorrhage: Novel Hypotheses for Readthrough Strategy. [PDF]

Genes (Basel)
Gemmati D, D'Aversa E, Antonica B, Grisafi M, Salvatori F, Pizzicotti S, Pellegatti P, Ciccone M, Moratelli S, Serino ML, Tisato V.   +10 more
europepmc   +1 more source