Results 121 to 130 of about 2,902,010 (219)

SPG4 Hereditary Spastic Paraplegia: From Etiology to Therapy

Movement Disorders, EarlyView.
Abstract Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of heritable neurodegenerative disorders resulting from mutations in a wide variety of genes. HSP locomotor symptoms include lower limb weakness and spasticity that arise from progressive degeneration of corticospinal axons projecting from the motor cortex to the distal ...
Emanuela Piermarini, Peter W. Baas
wiley   +1 more source

"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant. [PDF]

Eur J Hum Genet, 2022
Nicita F, Stregapede F, Deodato F, Pizzi S, Martinelli S, Pagliara D, Aiello C, Cumbo F, Piemonte F, D'Amico J, Pro S, Longo D, Genovese S, Tartaglia M, Escolar ML, Bertini E, Travaglini L.   +16 more
europepmc   +1 more source

Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome

npj Genomic Medicine
Multigene panel tests (MGPTs) revolutionized the diagnosis of Lynch syndrome (LS), however noncoding pathogenic variants (PVs) can only be detected by complementary methods including whole genome sequencing (WGS).
Klaudia Horti-Oravecz, Anikó Bozsik, Tímea Pócza, Ildikó Vereczkey, Tamás Strausz, Erika Tóth, Tatiana Sedlackova, Diana Rusnakova, Tomas Szemes, István Likó, Edit Oláh, Henriett Butz, Attila Patócs, János Papp, Vince Kornél Grolmusz   +14 more
doaj   +1 more source

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III. [PDF]

Cold Spring Harb Mol Case Stud, 2022
Buchh M, Gillespie PJ, Treat K, Abreu MA, Schwantes-An TL, Helm BM, Fang F, Xuei X, Mantcheva L, Suhrie KR, Graham BH, Conboy E, Vetrini F.   +12 more
europepmc   +1 more source

Precision medicine in cancer: A comprehensive review of advanced cancer diagnosis technologies and personalized treatment strategies

Precision Medical Sciences, EarlyView.
The translational pipeline of precision medicine in clinical oncology. Schematic overview of the individualized cancer care workflow. (1) Input: Patient samples undergo multi‐omic profiling via NGS, single‐cell diagnostics, spatial maps, and epigenetic sequencing.
Asif Jan, Bushra Waheed, Rani Akbar, Daniel Dubwa   +3 more
wiley   +1 more source

Comparisons Between Large‐Scale Genomic Variants and SNPs in Driving Population Divergence and Local Adaptation

Integrative Zoology, EarlyView.
Candidate genes identified from SNPs, indels, and SVs exhibited limited shared genes, suggesting that diverse variant types capture complementary aspects of the adaptive landscape. Our results underscore the importance of incorporating multiple types of genomic variation to achieve a more comprehensive understanding of evolutionary processes.
Qianghui Zhu, Hongrui Lv, Yalin Cheng, Shangyu Wang, Dezhi Zhang, Yan Hao, Gang Song, Fumin Lei   +7 more
wiley   +1 more source

A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel-Palade Bodies. [PDF]

Int J Mol Sci, 2022
Yadegari H, Jamil MA, Marquardt N, Oldenburg J.   +3 more
europepmc   +1 more source

Familial currarino syndrome caused by a deep intronic variant resulting in missplicing of MNX1

Currarino syndrome (CS) is an autosomal dominant multiple congenital anomalies syndrome characterised by a triad of anorectal malformations, presacral masses, and sacral defects.
Em C. Jameson, Zandra A. Jenkins, David Markie, Stephen P. Robertson, Benjamin J. Halliday, Kate Gibson, Candice Feben   +6 more
core   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Genome‐wide association and interaction analysis for proliferative retinopathy in adults with type 2 diabetes born during famine: The DOLCE study in Ukraine

Acta Ophthalmologica, EarlyView.
Abstract Purpose Proliferative diabetic retinopathy (PDR) is one of the leading causes of blindness in working‐age adults. We have previously shown that the risk of PDR is significantly elevated in individuals with intrauterine exposure to famine. However, the genetic mechanisms mediating this association remain unknown.
Olena Fedotkina, Most Champa Begum, Xuan Tung Trinh, Turkuler Özgumus, Mikael Åkerlund, Peter Nilsson, Leticia Maria Spindola, Valeriya Lyssenko   +7 more
wiley   +1 more source