Results 101 to 110 of about 159,772 (339)

The first Japanese familial sotos syndrome with a novel mutation of the NSD1 gene [PDF]

, 2006
Sotos syndrome is caused by the haploinsufficiency of the NSD1 gene located in5q35. More than 70% of the Japanese cases carry microdeletions encompassing ofthis gene, while point mutations are common in Caucasians. Only 15 familial cases ofSotos syndrome
Matsuo, Masafumi, Tei, Satoshi, Tsuneishi, Syuichi   +2 more
core   +1 more source

Transduplication resulted in the incorporation of two protein-coding sequences into the Turmoil-1 transposable element of C. elegans [PDF]

, 2008
Transposable elements may acquire unrelated gene fragments into their sequences in a process called transduplication. Transduplication of protein-coding genes is common in plants, but is unknown of in animals.
Ast, Gil, Makalowski, Wojciech, Pupko, Tal, Sela, Noa, Stern, Adi   +4 more
core   +4 more sources

Interplay between RNA‐protein interactions and RNA structures in gene regulation

FEBS Open Bio, EarlyView.
Methodological advances in mapping transcriptome‐wide RNA‐protein interactions and RNA structures have started to uncover the potential of RNP conformations in gene regulation. Competing RNA–RNA, RNA‐protein and protein–protein interactions shape the compaction and function of RNPs throughout their lifetime and may provide novel therapeutic targets in ...
Jenni Rapakko, Mauro Scaravilli, Minna‐Liisa Änkö   +2 more
wiley   +1 more source

A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

BMC Medical Genetics, 2011
Background Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis.
Arístegui Javier, Garrote Elisa, Rodríguez Jose A, Sarasola Esther, García-Barcina Maria J   +4 more
doaj   +1 more source

Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability

Frontiers in Genetics, 2020
Hereditary spastic paraplegias (HSPs) is a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias.
Muhammad Imran Naseer, Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Peter Natesan Pushparaj, Peter Natesan Pushparaj, Fehmida Bibi, Fehmida Bibi, Adeel G. Chaudhary, Adeel G. Chaudhary, Adeel G. Chaudhary   +9 more
doaj   +1 more source

Identification of 22 novel mutations in patients with Glanzmann's thrombasthenia [PDF]

, 2008
Glanzmann's thrombasthenia (GT) is an autosomal recessive inherited platelet function defect that characterized by reduction in, or absence of, platelet aggregation in response to multiple physiologic agonists. GT is characterized by normal platelet
Abdul Ethayathulla, Birendra Yadav, Firdos Ahmad, Meganathan Kannan, Rajive Kumar, Renu Saxena, Ved Choudhry   +6 more
core   +1 more source

Homologous expression and purification of human HAX‐1 for structural studies

FEBS Open Bio, EarlyView.
This research protocol provides detailed instructions for cloning, expressing, and purifying large quantities of the intrinsically disordered human HAX‐1 protein, N‐terminally fused to a cleavable superfolder GFP, from mammalian cells. HAX‐1 is predicted to undergo posttranslational modifications and to interact with membranes, various cellular ...
Mariana Grieben
wiley   +1 more source

A splicing-dependent transcriptional checkpoint associated with prespliceosome formation [PDF]

, 2014
There is good evidence for functional interactions between splicing and transcription in eukaryotes, but how and why these processes are coupled remain unknown.
Ahn, Aitken, Alexander, Alexander, Batsché, Bentley, Buratowski, Carrillo Oesterreich, Chapman, Chen, Cho, Cordin, Cramer, Damgaard, Das, David, de Almeida, Dönmez, Edgar, Egloff, Fong, Furger, Görnemann, Hirose, J. David Barrass, Jean D. Beggs, Ji, Kameoka, Keerthi T. Chathoth, Komarnitsky, Kornblihtt, Kornblihtt, Kosowski, Lacadie, Levine, Li, Lin, McCracken, McKay, Miller, Moore, Orphanides, Perriman, Perriman, Perriman, Perriman, Pleiss, Ruby, Schmidt, Schneider, Schroeder, Shao, Shaun Webb, Singh, Tardiff, Wahl, Wells, Witten, Xu, Xu, Yan, Zavanelli, Zhou   +62 more
core   +1 more source

Evolutionary dynamics of the chloroplast genome in Daphne (Thymelaeaceae): comparative analysis with related genera and insights into phylogenetics

FEBS Open Bio, EarlyView.
Comparative analysis of chloroplast genomes from 14 genera of Thymelaeaceae revealed variation in gene content, ranging from 128 to 142 genes, primarily influenced by IR expansion/contraction events and pseudogenization of ndhF, ndhI, and ndhG. Two large inversions were detected within the large single‐copy region, including a synapomorphic inversion ...
Abdullah, Hui Li, Rushan Yan, Chengyu Chen, Madiha Islam, Abdul Majid, Ibrar Ahmed, Parviz Heidari, Xiaoxuan Tian   +8 more
wiley   +1 more source

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy [PDF]

, 2018
Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanin CD151 expressed in ...
Abiri, Maryam, Aristodemou, Sophia, Ertel, Adam, Fortina, Paolo, Kajbafzadeh, Abdol-Mohammad, Kariminejad, Ariana, Liu, Lu, Londin, Eric, Mahmoudi, Hamidreza, McGrath, John A., Saeidian, Amir Hossein, Touati, Andrew, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +15 more
core   +1 more source