Results 81 to 90 of about 806,334 (155)

Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay

, 2011
Background Congenital atrichia is a rare autosomal recessive form of isolated alopecia which is caused by mutations in the human hairless (HR) gene. Patients are born with normal hair that is shed almost completely and irreversibly during the first weeks
S. Wenzel, N. Ishorst, Seyger, M. M., R.C. Betz, M. Refke, S.M. Pasternack, M.M. Nöthen, Hamel, B.C.J., Betz, R. C., Hamel, B. C., Pasternack, S.M., Wenzel, S., B. Fiebig, Pasternack, S. M., Nothen, Markus, Ishorst, N., Betz, R.C., Seijger, M.M.B., Fiebig, B., M.M. Seyger, Ludwig, M., B.C. Hamel, Refke, M., M. Ludwig, Nöthen, M. M.   +24 more
core   +1 more source

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay [PDF]

, 2019
X-linked Alport syndrome (XLAS) is a congenital renal disease caused by mutations in COL4A5. In XLAS cases suspected of being caused by aberrant splicing, transcript analysis needs to be conducted to determine splicing patterns and assess the ...
Horinouchi, Tomoko, Takeda, Hiroki, Morisada, Naoya, Matsuo, Masafumi, Shima, Yuko, Rossanti, Rini, Yamamura, Tomohiko, Aoto, Yuya, Kaito, Hiroshi, Nozu, Kandai, Sakakibara, Nana, Nakanishi, Koichi, Minamikawa, Shogo, Ishiko, Shinya, Nagano, China, Nagase, Hiroaki, Iijima, Kazumoto   +16 more
core   +1 more source

Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants

Molecular Therapy: Nucleic Acids
Splicing defects from deep-intronic variants significantly contribute to the mutational spectrum in ABCA4-associated inherited retinal diseases, necessitating functional validation for their pathological classification.
Pietro De Angeli, Arturo Flores-Tufiño, Katarina Stingl, Laura Kühlewein, Eleonora Roschi, Bernd Wissinger, Susanne Kohl   +6 more
doaj   +1 more source

Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia

International audienceBackground & aims: Familial hypobetalipoproteinemia 1 (FHBL-SD2) is the most common monogenic form of primary hypocholesterolaemia, related to truncating variants in the APOB gene encoding apolipoprotein B. Due to its high level
Janin, Alexandre, Moulin, Philippe, Marmontel, Oriane, Marrec, Marie, Di Filippo, Mathilde, Cariou, Bertrand, Wargny, Matthieu, Charrière, Sybil, Henry, Zoé, Nony, Séverine   +9 more
core   +1 more source

Activities of ASOs spanning the SOD1 minigene.

, 2014
A) SOD/TO or SOD/TO-187 cells were transfected with each of a series of 38 ASOs. Following ASO treatment, reduction of SOD1 transcript expressed from the minigene and of endogenous SOD1 was evaluated by qRT/PCR using primers and probes specific for the ...
Timothy A. Vickers (605766), Stanley T. Crooke (449546)   +1 more
core   +1 more source

Functional analyses of splice site variants in TCF12

Human Genomics
Pre-mRNA splicing is a fundamental step in protein synthesis within a cell. Malfunctions during this process can lead to dysfunctional proteins and thus, to a variety of different human diseases. Mis-splicing can be caused by genetic variants influencing
Angela Borst, Tilmann Schweitzer, Denise Horn, Erdmute Kunstmann, Eva-Maria König, Natalie Pluta, Eva Klopocki   +6 more
doaj   +1 more source

Rapid and Accurate Detection of Mycobacterium tuberculosis in Sputum Samples by Cepheid Xpert MTB/RIF Assay-A Clinical Validation Study [PDF]

, 2011
Background: A crucial impediment to global tuberculosis control is the lack of an accurate, rapid diagnostic test for detection of patients with active TB.
Perkins, M., Saathoff, E., Elmar Saathoff, Huggett, J, Zumla, A, Saathoff, E, Rojas-Ponce Gabriel, Andrea Rachow, Reither, K, Mtafya, Bariki, Huggett, J., Klaus Reither, Norbert Heinrich, Heinrich Norbert, Hoelscher Michael, Perkins Mark, Saathoff, Elmar, Mark Perkins, Mtafya, B, Boehme, C, Ntinginya, Elias N., Elias N. Ntinginya, O'Grady, J, Zumla Alimuddin, Saathoff Elmar, O'Grady, Justin, Catharina Boehme, Dheda, Keertan, Boehme Catharina, Ntinginya, EN, Dheda, K., Huggett Jim, Boehme, C., Rachow, A., Elias N Ntinginya, Jim Huggett, Dheda, K, Heinrich, N, Hoelscher, M., Keertan Dheda, Rojas-Ponce, G, Perkins, Mark, Hoelscher, Michael, Mtafya Bariki, Rachow, Andrea, Michael Hoelscher, Heinrich, N., Mtafya, B., Gabriel Rojas-Ponce, Rojas-Ponce, Gabriel, Boehme, Catharina, Perkins, M, Zumla, A., Reither, K., Rachow, A, Bariki Mtafya, Rojas-Ponce G.,, Reither, Klaus, Hoelscher, M, O'Grady J.,, Huggett, Jim, Ntinginya, E. N., O'Grady Justin, Heinrich, Norbert, Rachow Andrea, Reither Klaus, Zumla, Alimuddin, Dheda Keertan, Justin O'Grady, Ntinginya Elias N., Alimuddin Zumla   +70 more
core   +1 more source

Overview of synthetic minigene screening.

, 2012
a) Libraries are synthesized on programmable microarrays, cleaved from the chip surface and provided as a single mixture of antisense oligonucleotide templates.
Katharine V. Schwedhelm (188134), Arnold Kas (188137), Brad Stone (188163), Michael A. Tasch (188141), Leonard A. D'Amico (188151), Crystal Rawlings (188144), Srinath Sanda (188156), Jay Shendure (814), Brian D. Hondowicz (188132), Martin McIntosh (160973), Nirasha Ramchurren (188147), Nathan E. Standifer (188160)   +11 more
core   +1 more source

A new modification of the chiron ACS assay for total prostate-specific antigen achieves equimolar response characteristics and improves the detection of prostate cancer [PDF]

, 2003
Nonequimolar-response assays for prostate-specific antigen (PSA) are criticized for overestimating total PSA in some men without prostate cancer (PCA), and underestimating total PSA in some men with PCA.
De Angelis, Gabriela, Schmid, Hans-Peter, Brandt, Burkhard, Semjonow, Axel, Weining, Christoph, Heinecke, Achim, Hertle, Lothar, Hamm, Michael, Stieber, Petra, Oberpenning, Frank   +9 more
core   +1 more source

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients

Molecular Genetics & Genomic Medicine
Background Ornithine transcarbamylase deficiency (OTCD, MIM#311250) is a rare X‐linked urea cycle disorder causing hyperammonemia. While around 600 pathogenic OTC variants have been reported, cryptic changes like synonymous or in‐frame variants remain ...
Qingming Wang, Huimin Xiao, Fang Zhang, Hui Li, Juan Zhao, Haiming Yuan   +5 more
doaj   +1 more source