Results 201 to 210 of about 224,524 (254)

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Systematic Comparison of Computational Tools for Sanger Sequencing-Based Genome Editing Analysis. [PDF]

Cells
Aoki K, Yamasaki M, Umezono R, Hamamoto T, Kamachi Y.   +4 more
europepmc   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

De Novo Balanced Chromosomal Translocations Separate Intact FOXF1 From Its Distant Lung‐Specific Enhancer in Lethal Alveolar Capillary Dysplasia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder caused by haploinsufficiency of FOXF1 on chromosome 16q24.1. Genetic studies have revealed heterozygous point mutations or copy‐number variant deletions involving FOXF1 or the ~660‐bp ultra‐conserved lung‐specific enhancer ...
Hiuling Chan Joiner, Daniel McKinnon, Przemyslaw Szafranski, Tomasz Gambin, Partha Sen, Andrew J. Gifford, Edwin P. Kirk, Ryan D. Coleman, Nahir Cortes‐Santiago, Paweł Stankiewicz   +9 more
wiley   +1 more source

What Is the Accuracy of 16S PCR Followed by Sanger Sequencing or Next-generation Sequencing in Native Vertebral Osteomyelitis? A Systematic Review and Meta-analysis. [PDF]

Clin Orthop Relat Res
Mahmoud OK, Petri F, El Zein S, Fida M, Diehn FE, Verdoorn JT, Schuetz AN, Murad MH, Nassr A, Berbari EF.   +9 more
europepmc   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Enhancing the epidemiological surveillance of SARS-CoV-2 using Sanger sequencing to identify circulating variants and recombinants. [PDF]

Braz J Microbiol
Silva T, Oliveira E, Oliveira A, Menezes A, Jeremias WJ, Grenfell RF, Monte-Neto RLD, Pascoal-Xavier MA, Campos MA, Fernandes G, Alves P.   +10 more
europepmc   +1 more source

Clinical Experience With Eliglustat in Children With Gaucher Disease Type 1

American Journal of Medical Genetics Part A, EarlyView.
Erika R. Vucko, Allegra Quadri, Rachel E. Hickey, Carly A. Rasmussen, Monika Izdebski, Joel Charrow, Carlos E. Prada   +6 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Sanger sequencing and deconvolution of polyclonal infections: a quantitative approach to monitor drug-resistant Plasmodium falciparum. [PDF]

EBioMedicine
Maiga H, Morrison RD, Duffy PE.
europepmc   +1 more source