Results 121 to 130 of about 114,605 (302)

VHL gene mutation in patients with renal tumors

Urology Research and Practice, 2019
Objective: This study aimed to determine VHL gene mutations and the relation of these mutations to type and pathological stage of renal tumors. Materials and methods: Forty patients (20 males, 20 females; mean age 59 years) who underwent ablative ...
Raşit Altıntaş, Asude Alpman Durmaz, Burak Turna, Hüseyin Onay, Ferda Özkınay, İbrahim Kadri Cüreklibatır   +5 more
doaj   +2 more sources

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

MUTATIONAL HETEROZYGOTES IN BACTERIOPHAGES [PDF]

Proceedings of the National Academy of Sciences, 1959
D, Pratt, G S, Stent
openaire   +2 more sources

Longitudinal Analysis of Sleep‐Disordered Breathing and Cognitive Outcomes in Children Living With Sickle Cell Anaemia

Clinical Otolaryngology, EarlyView.
ABSTRACT Objectives Sleep‐disordered breathing (SDB) and cognitive challenges are commonly observed in children living with sickle cell anaemia (SCA). This study investigated the longitudinal change in polysomnographic outcomes and the association with cognitive functions in children living with SCA.
Shifa Hamdule, Melanie Koelbel, Johanna C. Gavlak, Sati Sahota, Fenella J. Kirkham, Anna M. Hood   +5 more
wiley   +1 more source

Familial defect of apolipoprotein В-100: molecular disease basis and clinico-biochemical characteristics of the patients

Кардиоваскулярная терапия и профилактика, 2007
Aim. To identify character and prevalence of apolipoprotein (apo) B-100 gene mutation in patients with clinical diagnosis of heterozygote familial hypercholesterolemia (FH); to describe its phenotypical features in mutation carriers. Material and methods.
P. P. Malyshev, A. N. Meshkov, L. A. Kotova, V. V. Kukharchuk   +3 more
doaj  

SOX30 Governs Synaptonemal Complex Assembly and Homologous Recombination in Male Meiosis

Cell Proliferation, EarlyView.
The transcription factor SOX30 directly binds promoter regions of SYCE1 and SYCE2 to mediate their transcriptional activation, thereby enabling proper assembly of central elements within the synaptonemal complex. Structural destabilisation of the synaptonemal complex in Sox30 KK spermatocytes triggers synaptic discontinuity, impairs homologous ...
Kangle Liu, Wenfeng Zhang, Xiao Jiang, Jianping Chen, Lei Zhu, Zhonghao Zhang, Jing Gu, Lulu Guo, Lin Ao, Qing Chen, Lei Sun, Yuhan Hu, Xin Wang, Yaxin Liu, Jia Cao, Fei Han, Jinyi Liu   +16 more
wiley   +1 more source

Single‐Cell Virtual Perturbation Screening Identifies STAT3 as a Key Regulator of Dentinogenesis

Cell Proliferation, EarlyView.
STAT3 promotes odontoblast differentiation in dental mesenchymal cells by transcriptionally regulating WNT2B via the canonical Wnt/β‐catenin signalling pathway. These findings elucidate a mechanism underlying dentine development. ABSTRACT Dentine formation constitutes a physiological process precisely regulated by signal transduction modules governing ...
Yanfei Zhu, Hongyuan Xu, Zijian Zhang, Siyuan Sun, Zihan Huang, Xin Gao, Houwen Pan, Xiangru Huang, Yuanqi Liu, Xinyu Wang, Hanbin Jia, Qinggang Dai, Lingyong Jiang   +12 more
wiley   +1 more source

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

Cell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh, Lidiia Plotnikova, Teemu Tiukuvaara, Reetta Kälviäinen, Riikka H. Hämäläinen   +4 more
wiley   +1 more source