Zobrazeno 1 - 10
of 1 968
pro vyhledávání: '"Phenotypic variability"'
Autor:
Xiao Liu, Yanling Long, Yu Wang, Bo Liu, Jiayun Ren, Gang wang, Min Wang, Xiaohong Meng, Yong Liu
Publikováno v:
BMC Ophthalmology, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Background Occult Macular Dystrophy (OMD), primarily caused by retinitis pigmentosa 1-like 1 (RP1L1) variants, is a complex retinal disease characterised by progressive vision loss and a normal fundus appearance. This study aims to investiga
Externí odkaz:
https://doaj.org/article/e4d95a1590de4aea9cf58cc637d6c406
Autor:
Raquel Schmidt, Larícia Olária Emerick Silva, Adésio Ferreira, Weverton Pereira Rodrigues, Henrique Duarte Vieira, Marcelo Antonio Tomaz, Fábio Luiz Partelli
Publikováno v:
Discover Agriculture, Vol 2, Iss 1, Pp 1-13 (2024)
Abstract The root system distribution of coffee, especially Coffea canephora cv. Robusta, remains poorly characterized. The aim of this study were: (i) to analyze the distribution of the root system in various genotypes of C. canephora cv. Robusta cu
Externí odkaz:
https://doaj.org/article/8d32289b48f44efeaafff6f188ba7de7
Autor:
Aysylu Murtazina, Dmitrii Subbotin, Anna Kuchina, Olga Gilvanova, Daniil Degterev, Olga Shchagina, Tatiana Cherevatova, Maria Bulakh, Darya Sherstyukova, Oksana Ryzhkova, Olga Kurushina, Mikhail Skoblov, Artem Borovikov, Sergey Kutsev
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Recent research has sparked a discussion on the spectrum of diseases linked to the MATR3 gene associated with amyotrophic lateral sclerosis and distal myopathy with vocal cord and pharyngeal weakness (VCPDM). To date, fewer than 50 cases of VCPDM hav
Externí odkaz:
https://doaj.org/article/0e97c5b455b14c928a3ae1cdf362ce68
Autor:
Tomasz A. Pawłowski, Jan Suszka, Joanna Mucha, Marcin Zadworny, Shirin Alipour, Barbara Kurpisz, Paweł Chmielarz, Andrzej M. Jagodziński, Daniel J. Chmura
Publikováno v:
Frontiers in Plant Science, Vol 15 (2024)
Tree species’ ability to persist within their current distribution ranges is determined by seed germination and seedling growth. Exploring variation in these traits in relation to climatic conditions helps to understand and predict tree population
Externí odkaz:
https://doaj.org/article/7a48668237374d82b781727056348c7c
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)
Abstract Tubulin beta-8 (TUBB8) is expressed exclusively in the oocyte and early embryo, encoding a beta-tubulin polypeptide that participates in the assembly of microtubules. TUBB8 was first attributed to being responsible for oocyte MI arrest. Furt
Externí odkaz:
https://doaj.org/article/1ecd85296b5a4002a2b438f4de1988ec
Autor:
Noelia Baz-Redón, María Antolín, María Clemente, Ariadna Campos, Eduard Mogas, Mónica Fernández-Cancio, Elisenda Zafon, Elena García-Arumí, Laura Soler, Núria González-Llorens, Cristina Aguilar-Riera, Núria Camats-Tarruella, Diego Yeste
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8473 (2024)
Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in DUOX2 can cause partial to total iodination organification defec
Externí odkaz:
https://doaj.org/article/5aad576b04f343ee948ea345c6334141
Publikováno v:
Heliyon, Vol 10, Iss 1, Pp e23272- (2024)
Objectives: CHARGE syndrome is a congenital hereditary condition involving multiple systems. Patients are easily misdiagnosed with idiopathic hypogonadotropic hypogonadism (IHH) due to the overlap of clinical manifestations. An accurate clinical diag
Externí odkaz:
https://doaj.org/article/c997cdc3533645f7ad4a7d79e03f09c4
Autor:
Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Mario Bengala, Silvia Lai, Alessandra Terracciano, Antonio Novelli, Giuseppe Novelli
Publikováno v:
Genes, Vol 15, Iss 5, p 597 (2024)
Alport Syndrome (AS) is the most common genetic glomerular disease, and it is caused by COL4A3, COL4A4, and COL4A5 pathogenic variants. The classic phenotypic spectrum associated with AS ranges from isolated hematuria to chronic kidney disease (CKD)
Externí odkaz:
https://doaj.org/article/74a4474e2f7f4d138d8608eac2b845ff
Autor:
Lăcrămioara Ionela Butnariu, Delia Andreia Bizim, Gabriela Păduraru, Luminița Păduraru, Ștefana Maria Moisă, Setalia Popa, Nicoleta Gimiga, Gabriela Ghiga, Minerva Codruța Bădescu, Ancuta Lupu, Ioana Vasiliu, Laura Mihaela Trandafir
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 10, p 5533 (2024)
Congenital hyperinsulinism (CHI) is a rare disorder of glucose metabolism and is the most common cause of severe and persistent hypoglycemia (hyperinsulinemic hypoglycemia, HH) in the neonatal period and childhood. Most cases are caused by mutations
Externí odkaz:
https://doaj.org/article/06d4eaa7767842e2af2516de1efd88c2
Autor:
Karolina Gruca-Stryjak, Emilia Doda-Nowak, Julia Dzierla, Karolina Wróbel, Marta Szymankiewicz-Bręborowicz, Jan Mazela
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 8, p 2423 (2024)
Cornelia de Lange syndrome (CdLS) is a complex genetic disorder with distinct facial features, growth limitations, and limb anomalies. Its broad clinical spectrum presents significant challenges in pediatric diagnosis and management. Due to cohesin c
Externí odkaz:
https://doaj.org/article/633c7929044d45679722e6bd12701bcc