Results 61 to 70 of about 23,557 (205)

PCR amplification of SRY-related gene sequences reveals evolutionary conservation of the SRY-box motif. [PDF]

Genome Research, 1993
SRY (sex-determining region of the Y chromosome) has recently been identified as a key regulatory gene in mammalian sex determination. The open reading frame of this gene contains an 80-amino-acid motif, the SRY-box, which shares a high degree of homology with a DNA-binding domain found in the high-mobility-group (HMG) proteins HMG1 and HMG2.
A M, Coriat, U, Müller, J L, Harry, D, Uwanogho, P T, Sharpe   +4 more
openaire   +2 more sources

Pyruvate dehydrogenase autoantibodies in autoantibody‐negative patients with seizures are associated with reduced pyruvate dehydrogenase activity

Epilepsia, EarlyView.
Abstract Objective We investigated the presence and potential functional relevance of antimitochondrial autoantibodies in patients suspicious for autoimmune encephalitis (AIE) associated with psychiatric symptoms and/or seizures, who were negative for known antineuronal autoantibodies.
Annika Breuer, Chiara A. Hummel, Tobias Baumgartner, Juliane L. Berns, Afaf Milad Said, Isabel Bünger, Susanne Schoch, Gábor Zsurka, Harald Prüss, Wolfram S. Kunz, Rainer Surges, Albert J. Becker, Julika Pitsch   +12 more
wiley   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report

Medisur, 2013
The most common karyotype of the Turner syndrome is 45,X, although it may occur as mosaic 45,X/46,XX. In the Provincial Medical Genetics Center, a 42-year-old pregnant woman underwent an amniocentesis which led to the detection of mosaic Turner Syndrome (
Pedro Alí Díaz-Véliz Jiménez, María Antonia Ocaña Gil, Leydi María Sosa Águila, Belkis Vidal Hernández   +3 more
doaj   +2 more sources

Oestrogen blocks the nuclear entry of SOX9 in the developing gonad of a marsupial mammal

BMC Biology, 2010
Background Hormones are critical for early gonadal development in nonmammalian vertebrates, and oestrogen is required for normal ovarian development.
Pask Andrew J, Calatayud Natalie E, Shaw Geoff, Wood William M, Renfree Marilyn B   +4 more
doaj   +1 more source

A rainbow trout SRY‐type gene expressed in pituitary glands

FEBS Letters, 1995
A Sox (SRY‐type HMG box) gene, designated SoxP1, was isolated from a cDNA library made from pituitaries of immature rainbow trout. Sequence analysis indicated that the cDNA had an open reading frame encoding 467 amino acid residues containing a DNA binding motif, known as the high mobility group (HMG) box. Northern blot analysis showed trout SoxP1 mRNA
Ito, Michihiko, Ishikawa, Masako, Suzuki, Shin, Takamatsu, Nobuhiko, Shiba, Tadayoshi   +4 more
openaire   +2 more sources

Establishment of Salivary Gland Tumors Arising in Salivary Gland‐Specific EWSR1::ATF1 Transgenic Mice

Head &Neck, EarlyView.
ABSTRACT Background Salivary gland carcinomas are uncommon malignancies with various histological subtypes harboring fusion genes. The EWSR1::ATF1 fusion gene, resulting from a translocation between chromosomes 12 and 22, is frequently observed in hyalinizing clear cell carcinoma (HCCC). However, the role of this fusion gene in HCCC oncogenesis remains
Yuri Hirai, Yoshitaka Utsumi, Daisuke Sano, Tatsu Kuwahara, Yoshihiro Aizawa, Takashi Hatano, Hisashi Hasumi, Yutaro Soejima, Tatsukata Kawagoe, Ryosuke Jikuya, Nobuhisa Mizuki, Satoshi Fujii, Toshitaka Nagao, Nobuhiko Oridate   +13 more
wiley   +1 more source

An An accurate molecular method to sex elephants using PCR amplification of Amelogenin gene

Pachyderm, 2020
The use of molecular methods to identify the sex of elephants from non-invasive samples is essential for studies of population dynamics and population genetics.
George Lohay
doaj   +1 more source

Amplification of Porcine SRY Gene for Sex Determination

Asian-Australasian Journal of Animal Sciences, 2009
The separation of X and Y chromosome-bearing sperm is of use in many aspects of livestock maintenance. In this study, we sought to determine the difference in DNA content between X- and Y-bearing sperm, separate sperm into X- and Y-enriched pools, and assess the efficacy of sorting.
S. G. Choi, M. S. Bae, E. S. Lee, S. O. Kim, B. K. Kim, J. H. Yang, C. E. Jeon, H. H. Kim, Y. J. Hwang, E. S. Lee, D. Y. Kim   +10 more
openaire   +1 more source