Results 61 to 70 of about 26,572 (220)

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Validation of the FVB/N-Tg(HSA* LR)20bCath mice of myotonic dystrophy using swallowing function assessment, histology, and immunofluorescence analysis.

PLoS ONE
Myotonic dystrophy is associated with dysphagia, which can lead to severe complications such as aspiration pneumonia and choking. However, few histopathological studies on dysphagia in myotonic dystrophy have been conducted.
Rie Asayama, Kaori Tanaka-Nishikubo, Jun Iwanami, Takahiro Fukazawa, Motoi Kanagawa, Naohito Hato   +5 more
doaj   +1 more source

A Cell-Based Double Reporter Gene Splicing Assay for Therapeutic Screening in Myotonic Dystrophy

The EuroBiotech Journal, 2023
The study has developed a model splicing construct assay system based on splicing misregulation, one of the major molecular features associated with myotonic dystrophy.
Udosen Inyang U., Granados Javier T., Brook John David   +2 more
doaj   +1 more source

Clinical Characteristics, Differential Diagnosis and Genetic Analysis of Concentric Retinitis Pigmentosa

Life, 2021
Concentric retinitis pigmentosa (RP), in which retinal degeneration is limited in the periphery, is rare and little information exists to date on the subject. Herein, we describe the clinical and genetic characteristics of this atypical form of RP.
Mei Nakahara, Akio Oishi, Manabu Miyata, Hanako Ohashi Ikeda, Tomoko Hasegawa, Shogo Numa, Yuki Otsuka, Maho Oishi, Fumihiko Matsuda, Akitaka Tsujikawa   +9 more
doaj   +1 more source

The C9ORF72 mutation brings more answers and more questions. [PDF]

, 2013
The clinical, neuropsychiatric and neuroimaging features of patients who carry the important new C9ORF72 mutation are discussed in this special series of Alzheimer's Research & Therapy.
Miller, Bruce L
core   +1 more source

Simple Mathematical Model Of Pathologic Microsatellite Expansions: When Self-Reparation Does Not Work

, 2007
We propose a simple model of pathologic microsatellite expansion, and describe an inherent self-repairing mechanism working against expansion. We prove that if the probabilities of elementary expansions and contractions are equal, microsatellite ...
Amos, Angers, Barton, Bell, Boris Veytsman, Brinkmann, Brock, Brunner, Calabrese, Calabrese, Cleary, de Gennes, Di Rienzo, Ellegren, Ellegren, FitzSimmons, Garza, Goldstein, Gomes-Pereira, Harper, Harr, Huang, Kayser, Kruglyak, Kruglyak, Lai, Lai, Lai, Leila Akhmadeyeva, Libby, Makova, Mirkin, Monckton, Nielsen, Painter, Pearson, Pearson, Piñeiro, Primmer, Primmer, Schlötterer, Shinde, Shriver, Sibly, Sibly, Tachida, Whittaker, Xu, Yang   +48 more
core   +1 more source

Plant organelle C‐to‐U RNA editing factors can operate successfully in yeast (Saccharomyces cerevisiae) as an easily amenable eukaryotic system for their functional analysis

The FEBS Journal, EarlyView.
Plant‐type pentatricopeptide repeat proteins capable of C‐to‐U RNA editing perform faithfully when expressed in a new heterologous system, the yeast Saccharomyces cerevisiae. They were tested with constitutive and inducible expression and with a set of different solubility tags. PPR56, PPR65, and PPR78 from P.
Shyam Ramanathan, Annika Hanraths, Jingchan Xie, Mareike Schallenberg‐Rüdinger, Volker Knoop   +4 more
wiley   +1 more source

A pedigree with myotonic dystrophy: electrophysiological and genetic characteristics

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To summarize the clinical, electrophysiological and genetic characteristics of a pedigree with myotonic dystrophy (DM). Methods and Results The 25-year-old male proband exhibited an occult onset, characterized by a distinctive "hatchet face ...
HUANG Jing, LEI Qian, LEI Xiao-yang, YANG Xiao-min, WAN Xiang-hong, HE Dian   +5 more
doaj   +1 more source

Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1) [PDF]

, 2014
Background : Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic multisystem disorder and the commonest adult-onset form of muscular dystrophy. DM1 results from the expansion of an unstable trinucleotide cytosine-thymine-guanine (CTG) repeat
Jean, Stéphane, Laberge, Luc, Mathieu, Jean, Richer, Louis   +3 more
core   +2 more sources

Super‐Response to Guselkumab Treatment in Patients With Moderate‐to‐Severe Psoriasis: Real‐World Data With Up to Five Years of Follow‐Up in The Czech Republic

International Journal of Dermatology, EarlyView.
Super‐response to Guselkumab. ABSTRACT Background Guselkumab, a selective interleukin (IL)‐23 inhibitor, is approved for the treatment of moderate‐to‐severe plaque psoriasis. While randomized clinical trials have introduced the concept of “super‐responders” (SRe)—patients achieving complete skin clearance (Psoriasis Area and Severity Index [PASI] 100 ...
Martina Kojanova, Daniela Pejrilova, Jorga Fialova, Petra Cetkovska, Spyridon Gkalpakiotis, Alena Machovcova, Petr Arenberger, Jiri Stork, Tomas Dolezal, Martin Tichy, the BIOREP study group, Zdenek Antal, Monika Balaz, Jirina Bartonova, Gabriela Behrami, Linda Blahova, Petr Bohac, Martin Cetkovsky, Dominika Diamantova, Magdalena Dobiasova, Olga Filipovska, Jana Foldesova, Martina Grycova, Eduard Hrnciř, Jiri Horazdovsky, Katerina Hrazdirova, Monika Hudymacova, Marie Jandova, Hana Janatova, Lucie Jaresova, Ludmila Kajtmanova, Frantisek Keznikl, Peter Kicko, Zuzana Kondasova, Sarka Kozojedova, Jiri Korda, Jana Kreisslova, Anezka Kreisslova, Silvie Krchova, Lenka Kulmanova, Natalie Kunesova, Zdenka Kysilka, Iva Lomicova, Romana Machackova, Barbora Machackova, Lukas Mericko, Miroslav Necas, Helena Nemcova, Radka Neumannova, Michaela Novakova, Jitka Osmerova, Veronika Pallova, Veronika Patavova, Lucie Petrů, Marie Policarova, Tomas Pospisil, Simona Risianova, Filip Rob, Marcela Rozkosova, Libuse Sazmova, Jaroslav Sevcik, Iva Schmidtmayerova, Martin Sicha, Kristyna Sokolova, Eliska Stankova, Jan Sternbersky, Ivana Strouhalova, David Stuchlik, Alena Stumpfova, Katerina Svarcova, Katerina Tepla, Hana Tomkova, Jana Tresnak Hercogova, Simona Vachatova, Yvetta Vantuchova, Ivana Vejrova, Iva Zampachova   +76 more
wiley   +1 more source