Results 131 to 140 of about 44,110 (224)

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing

JIMD Reports
Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta‐oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms.
Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier   +8 more
doaj   +1 more source

Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Inherited platelet disorders (IPDs) are rare hematologic conditions encompassing a heterogeneous spectrum of quantitative and qualitative platelet defects, frequently associated with variable clinical phenotypes and comorbidities. Accurate diagnosis necessitates comprehensive genetic characterization, detailed clinical and bleeding ...
Silvia Ferrari, Daniela Regazzo, Antonella Bertomoro, Anna Cerbo, Alessandro Galbiati, Elisabetta Cosi, Paolo Simioni   +6 more
wiley   +1 more source

Identification of novel pathogenic mutations in ATP6V0A4 associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease

Renal Failure
Distal renal tubular acidosis (dRTA) is a rare renal disorder caused by genetic mutations or secondary factors. If untreated, it can result in a significant electrolyte imbalance and progressive chronic kidney disease (CKD).
Yaru Jiang, Menglu Ren, Chun Gan, Qing Yang, Huimin Jiang, Han Xiao, Xindi Zhou, Wanbing Chen, Xuejun Yang, Baohui Yang, Yaxi Chen, Mo Wang, Haiping Yang, Wei Jiang, Qiu Li   +14 more
doaj   +1 more source

Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation. [PDF]

Int J Mol Sci, 2022
Vallverdú-Prats M, Brugada R, Alcalde M.   +2 more
europepmc   +1 more source

A new endemic pearl cichlid of the ‘Geophagus’ brasiliensis (Cichliformes: Cichlidae) species group from the Piranga River, upper Doce River basin, southeastern Brazil

Journal of Fish Biology, EarlyView.
Abstract A new species of pearl cichlid of the ‘Geophagus’ brasiliensis species group, endemic to the Piranga River, a major tributary of the upper Doce River basin in the state of Minas Gerais, southeastern Brazil, is herein described. The new species is delimited using an integrative approach, with molecular‐based species delimitation methods coupled
Cidimar E. de Assis, Jorge A. Dergam, Amanda F. Cunha, Valéria N. Machado, Tomas Hrbek, Natállia M. de F. Vicente, Victor de Queiroz, Elisabeth Henschel   +7 more
wiley   +1 more source

Nonselective TRPC channel inhibition and suppression of aminoglycoside-induced premature termination codon readthrough by the small molecule AC1903. [PDF]

J Biol Chem, 2022
Baradaran-Heravi A, Bauer CC, Pickles IB, Hosseini-Farahabadi S, Balgi AD, Choi K, Linley DM, Beech DJ, Roberge M, Bon RS.   +9 more
europepmc   +1 more source

Hybrid sorghum breeding in China: A historical review and perspectives

Journal of Integrative Plant Biology, EarlyView.
To commemorate the 60th anniversary of the promotion and application of three‐line hybrid sorghum in China, this review highlights pivotal scientific breakthroughs, systematically summarizes the progress in hybrid sorghum breeding and dwarf sorghum breeding in the country, and presents an outlook on the future of sorghum breeding.
Xiangxiang Meng, Lu Li, Qian Qian, Liang Jiang, Zhaosheng Kong   +4 more
wiley   +1 more source

Co‐inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction

British Journal of Haematology, EarlyView.
Perla Bandini, Nina Borràs, Laura Martin‐Fernandez, Nuria Fernández‐Mosteirín, Maria Reyes Aguinaco, Olga Benítez, Natàlia Comes, Lorena Ramírez, Noemí González, Carina Lera, Carme Altisent, Francisco Vidal, Irene Corrales   +12 more
wiley   +1 more source

Drivers of strigolactone diversity: P450s in strigolactone biosynthesis

Journal of Integrative Plant Biology, EarlyView.
This review summarizes the discovery and functional identification of cytochrome P450 in strigolactone biosynthesis, classifies and summarizes the members discovered so far, clarifies their biological significance, discusses the technology of strigolactone synthesis research, and finally describes some problems in strigolactone research and potential ...
Changbin Niu, Harro J. Bouwmeester, Changsheng Li   +2 more
wiley   +1 more source

Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A. [PDF]

Int J Mol Sci, 2022
Beryozkin A, Samanta A, Gopalakrishnan P, Khateb S, Banin E, Sharon D, Nagel-Wolfrum K.   +6 more
europepmc   +1 more source