Results 121 to 130 of about 8,343 (220)

Browning deficiency and low mobilization of fatty acids in gonadal white adipose tissue leads to decreased cold-tolerance of transglutaminase 2 knock-out mice [PDF]

, 2017
K
Bacsó, Zsolt, Bai, Péter, Cuaranta-Monroy, Ixchelt, Fésüs, László, Kristóf, Endre, Lénárt, Kinga, Mezei, Zoltán András, Mádi, András, Oláh, Anna, Pap, Attila, Vámosi, György   +10 more
core   +1 more source

Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders

Molecular Medicine, 2007
A significant portion of patients with 22q11 deletion syndrome (22q11DS) develop psychiatric disorders, including schizophrenia and other psychotic and affective symptoms, and the responsible gene/s are assumed to also play a significant role in the etiology of nonsyndromic psychiatric disease.
Birgit H, Funke, Todd, Lencz, Christine T, Finn, Pamela, DeRosse, G David, Poznik, Alex M, Plocik, John, Kane, John, Rogus, Anil K, Malhotra, Raju, Kucherlapati   +9 more
openaire   +2 more sources

Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms. [PDF]

, 2015
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is the most common micro-deletion syndrome. The associated 22q11.2 deletion conveys the strongest known molecular risk for schizophrenia.
Bassett, Anne S, Butcher, Nancy J, Guna, Alina   +2 more
core   +1 more source

Modification of Cardiac Phenotype in Tbx1 Hypomorphic Mice [PDF]

, 2016
Congenital heart disease is still the leading cause of death within the first year of life. Our lab forces on understanding the morphology of congenital heart disease. Outflow tract anomalies, including abnormal alignment or septation, account for 30 % of all congenital heart disease.
Takatoshi Tsuchihashi, Reina Ishizaki, Jun Maeda, Akimichi Shibata, Keiko Uchida, Deepak Srivastava, Hiroyuki Yamagishi   +6 more
openaire   +1 more source

TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy

The Turkish Journal of Pediatrics, 2007
Fallot tetralogy (FT) is the most frequently observed conotruncal heart defect (CTHD) and accompanies 15% of the 22q11 deletion syndromes, DiGeorge/ velocardiofacial (DGS/VCFS) syndromes.
Feryal Cabuk, Halil G Karabulut, Timur Tuncali, Selmin Karademir, Mithat Bozdayi, Ajlan Tükün   +5 more
doaj  

Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy

La Pediatria Medica e Chirurgica, 2016
In the present paper we report on a case of oculo-auriculo-vertebral spectrum presenting fluorescence in situ hybridization and comparative genomic hybridization tests negative, hypotonia of some branchiomeric muscles (with velo-pharyngeal insufficiency,
Giovanni Murialdo, Attilia Piazzi, Giuseppe Badolati, Enrico Calcagno, Agostino Berio   +4 more
doaj   +1 more source

Regulation of Sema3c and the Interaction between Cardiac Neural Crest and Second Heart Field during Outflow Tract Development

Scientific Reports, 2017
The cardiac neural crest cells (cNCCs) and the second heart field (SHF) play key roles in development of the cardiac outflow tract (OFT) for establishment of completely separated pulmonary and systemic circulations in vertebrates. A neurovascular guiding
Kazuki Kodo, Shinsuke Shibata, Sachiko Miyagawa-Tomita, Sang-Ging Ong, Hiroshi Takahashi, Tsutomu Kume, Hideyuki Okano, Rumiko Matsuoka, Hiroyuki Yamagishi   +8 more
doaj   +1 more source

Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.

, 2013
The exstrophy-epispadias complex (BEEC) is a urogenital birth defect of varying severity. The causes of the BEEC are likely to be heterogeneous, with individual environmental or genetic risk factors still being largely unknown. In this study, we aimed to
Bartels, E., Boemers, T., Draaken, M., Ebert, A., Herrmann, B., Hoffmann, P., Ludwig, M., Moebus, S., Mughal, S., Nöthen, M., Pennimpede, T., Reutter, H., Rösch, W., Schmidt, D., Schmiedeke, E., Stein, R., Wittler, L., Wolter, S.   +17 more
core   +1 more source

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.

PLoS ONE
The TBX1 gene plays a critical role in the development of 22q11.2 deletion syndrome (22q11.2DS), a complex genetic disorder associated with various phenotypic manifestations.
Maitha Almakhari, Yan Chen, Amanda Shen-Yee Kong, Danesh Moradigaravand, Kok-Song Lai, Swee-Hua Erin Lim, Jiun-Yan Loh, Sathiya Maran   +7 more
doaj   +1 more source

Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2018
Patients with 22q11.2 deletion syndrome have characteristic facial appearance, palate abnormalities, hypoparathyroidism, thymic hypoplasia, and congenital heart disease. The 22q11.2 region includes TBX1 and 30 other genes. Analysis of Tbx1 transgenic mice showed that TBX1 was associated with the 22q11.2 deletion syndrome. In humans, TBX1 mutations have
Hasegawa, Kosei, Tanaka, Hiroyuki, Higuchi, Yousuke, Hayashi, Yumiko, Kobayashi, Katsuhiro, Tsukahara, Hirokazu   +5 more
openaire   +2 more sources