Results 251 to 260 of about 616,369 (340)

Complete Chloroplast Genome Sequence of the Endemic and Medicinal Plant <i>Zingiber salarkhanii:</i> Comparative Analysis and Phylogenetic Relationships. [PDF]

Biology (Basel)
Islam MR, Alzahrani DA, Albokhari EJ, Alawfi MS, Alsubhi AI.   +4 more
europepmc   +1 more source

Advancing Codon Language Modeling with Synonymous Codon Constrained Masking [PDF]

James Heuschkel, Laura J. Kingsley, Noah Pefaur, Andrew E. Nixon, Steve Cramer   +4 more
openalex   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Viral codon usage and the virus-host interactions. [PDF]

Front Microbiol
Sirihongthong T, Auewarakul P.
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Eukaryotic initiation factor eIF3 facilitates loading of eukaryotic release factor eRF1 or suppressor tRNA to the ribosome. [PDF]

Nucleic Acids Res
Shuvalova E, Shuvalov A, Al Sheikh W, Klishin A, Biziaev N, Alkalaeva E.   +5 more
europepmc   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Comparative Mitogenomics and Phylogeny of Geotrupidae (Insecta: Coleoptera): Insights from Two New Mitogenomes of Qinghai-Tibetan Plateau Dung Beetles. [PDF]

Biology (Basel)
Wang H, Ai SM, Lv HH, Li SJ, Wang YX, Yuan ML.   +5 more
europepmc   +1 more source

Supplementary Figure 1 from CTG-Initiated Cryptic Peptide Translation Up- and Downstream of a Canonical ATG Start Codon Is Enhanced by TLR Stimulation and Induces Tumor Regression in Mice [PDF]

Ziye Song, Youkyung Lim, Anneloes van Krimpen, Mitchell A.A. Geleijnse, Manon Messchendorp, Jane S.A. Voerman, Ling Li, Emma G.M. Tondeur, Gunja Mishra, Brett J. Hos, Dwin G.B. Grashof, Ralph Stadhouders, Harmen J.G. van de Werken, Peter D. Katsikis, Christopher Schliehe   +14 more
openalex   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source