Results 61 to 70 of about 241,061 (333)

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

BMC Pediatrics, 2021
Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants
Qingyun Kang, Liming Yang, Hongmei Liao, Sai Yang, Xiaojun Kuang, Zeshu Ning, Caishi Liao, Bo Chen   +7 more
doaj   +1 more source

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum [PDF]

, 2005
In contrast to the common and genetically complex senile form of Alzheimer's disease (AD), the molecular genetic dissection of inherited presenile dementias has given important mechanistic insights into the pathogenesis of degenerative brain disease ...
Cruts, Marc, Dermaut, Bart, Kumar-Singh, Samir, Rademakers, Rosa, Theuns, Jessie, Van Broeckhoven, Christine   +5 more
core   +1 more source

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes [PDF]

, 2019
Objective: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.
Antonellis, Anthony, Donaldson, Kevin, Emrick, Lisa, Gao, Mingshi, Hou, Ya-Ming, Jiang, Yanjun, Lalani, Seema R., Landsverk, Megan L., Lee, Sansan, Lewis, Andrea M., Li, Meixia, Li, Yuxin, Lin, Jie, Lu, Jiahong, Luo, Sushan, Magoulas, Pilar L., Mei, Hui, Niu, Zhiyv, Oprescu, Stephanie N., Person, Richard E., Rosenfeld, Jill A., Slavin, Thomas P., Song, Jie, Sun, Chong, Walkiewicz, Magdalena, Wang, Yin, Xi, Jianying, Yang, Yaping, Zhang, Victor W., Zhao, Chongbo   +29 more
core   +1 more source

Genetic regulation of pituitary gland development in human and mouse [PDF]

, 2009
Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke’s ...
Aarskog, Acampora, Agarwal, Aijaz, Alba, Ambrosetti, Ambrosetti, Andersen, Andersen, Andersen, Andoniadou, Arroyo, Asteria, Avilion, Bach, Bakrania, Bao, Barnhart, Bartke, Bartke, Bhangoo, Bhati, Bilodeau, Blankenstein, Bodner, Boncinelli, Bonnefont, Böttner, Briata, Brickman, Brinkmeier, Brinkmeier, Brown, Brown, Cai, Carvalho, Castinetti, Cattanach, Cha, Charles, Charles, Chassaing, Chatelain, Chen, Chou, Christian, Cogan, Cohen, Cohen, Cohen, Cohen, Corneli, Couly, Couly, Coya, Cushman, Cushman, Daikoku, Daniel Kelberman, Dasen, Dasen, Dateki, Dattani, Davis, De Moerlooze, de Zegher, Deladoëy, Diaczok, Dodé, Douglas, Driever, Drouin, Duquesnoy, Dutta, Ellsworth, Ericson, Ezzat, Faivre, Falardeau, Fantes, Fauquier, Ferrand, Ferri, Flück, Fofanova, Fofanova, Fofanova, Gage, Gage, Gage, Gage, Gaston-Massuet, Gat-Yablonski, Gat-Yablonski, Gleiberman, Gleiberman, Gordon, Granger, Guichet, Hagstrom, Hamel, Hashimoto, Hayward, Hendriks-Stegeman, Hermesz, Hertzano, Himes, Hol, Holl, Hökfelt, Huang, Hui, Hume, Iain C. A. F. Robinson, Idrees, Ikeda, Ingraham, Irie, Japón, Jean, Kan, Karine Rizzoti, Kawamura, Kawamura, Kelberman, Kelberman, Kelberman, Kimura, Kioussi, Kishimoto, Kita, Kitamura, Kouki, Kriström, Kurokawa, Kurokawa, Lagerström-Fermér, Lamolet, Lamonerie, Lanctôt, Lanctôt, Laumonnier, Le Tissier, Lebl, Lemos, Li, Li, Li, Li, Lim, Lin, Lin, Lindsay, Liu, Lourenço, López-Ríos, Lu, Luo, Machinis, Machinis, Malvagia, Mansukhani, Martinez-Barbera, McGillivray, McLennan, McNay, Mehul T. Dattani, Mendonca, Metherell, Miyata, Morceau, Murray, Naiche, Nasonkin, Netchine, Ngan, Nolen, Norlin, Nose, Nudi, Ohta, Ohuchi, Okamoto, Olson, Olson, Osorio, Osumi-Yamashita, Pabst, Paracchini, Parkin, Parks, Patel, Pellegrini-Bouiller, Pernasetti, Pernasetti, Pfaeffle, Pfaeffle, Pfaffle, Pfäffle, Phillips 3rd, Pitteloud, Pogoda, Potok, Poulin, Pulichino, Pulichino, Qi, Quentien, Radovick, Raetzman, Raetzman, Raetzman, Ragge, Ragge, Rainbow, Rajab, Raverot, Rayapureddi, Reynaud, Reynaud, Rhinn, Rhodes, Rhodes, Riepe, Rizzoti, Rizzoti, Rizzoti, Robin Lovell-Badge, Rodrigues Martineli, Roessler, Roessler, Rubenstein, Sadovsky, Sajedi, Sajedi, Salemi, Salisbury, Sato, Savage, Scaffidi, Semina, Semina, Semina, Sheng, Sheng, Sheng, Sheng, Shinkai, Shinoda, Simmons, Sisodiya, Sloop, Sloop, Sloop, Snabboon, Sobrier, Sobrier, Sobrier, Sornson, Stahl, Steger, Suh, Sun, Susa, Szeto, Szeto, Tajima, Tajima, Tajima, Takuma, Tang, Tatsumi, Tatsumi, Thomas, Thomas, Thomas, Thomas, Tierney, Tootle, Treier, Treier, Tremblay, Tremblay, Tremblay, Tremblay, Tsai, Turton, Turton, Urs, Vallette-Kasic, Vallette-Kasic, Vesper, Vieira, Vieira, Vimpani, Voutetakis, Voutetakis, Wales, Ward, Ward, Ward, Watanabe, Watanabe, Weintrob, Weiss, West, Williamson, Winnier, Wit, Wood, Woods, Wu, Wyatt, Xu, Yamada, Zenteno, Zhang, Zhao, Zhao, Zhu, Zhu, Zorn   +321 more
core   +2 more sources

Autophagy in cancer and protein conformational disorders

FEBS Letters, EarlyView.
Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley   +1 more source

Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly

Journal of Biochemical and Clinical Genetics, 2023
Background: The term "Syndactyly" referred to an inherited deformity of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached and mostly inherited in an autosomal dominant manner.
Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair   +5 more
doaj   +1 more source

A role for non-B DNA forming sequences in mediating microlesions causing human inherited disease [PDF]

, 2015
Missense/nonsense mutations and micro-deletions/micro-insertions of
Aguilera, Bacolla, Bacolla, Bacolla, Bacolla, Bacolla, Ball, Belotserkovskii, Bharti, Biffi, Bochman, Boyer, Brooks, Bzymek, Cebrián, Chen, Chen, Chuzhanova, Clark, Cooper, Cooper, Cooper, De, Ding, Dong, Du, Fleming, Greenblatt, Guo, Gusev, Iyer, Jain, Jain, Javadekar, Jeitany, Kaushik Tiwari, Kondrashov, Kouzine, Kregten, Kunkel, Kunkel, Kunkel, Lam, Lee, Levinson, León-Ortiz, Lopes, Lovett, Lu, Majumdar, Margolin, Morikawa, Mort, Mukherjee, Mukherjee, Murat, Nambiar, Patel, Raghavan, Reeves, Rosche, Rouleau, Sanders, Schofield, Sen, Sharma, Sinden, Sinden, Spurlock, Stenson, Stenson, Tappino, Vasquez, Verdin, Wang, Wells, Wickramasinghe, Williams, Wu, Wu, Wu, Wu, Yang, You, Zhao, Zhao, Zhou   +86 more
core   +1 more source

Disruption of SETD3‐mediated histidine‐73 methylation by the BWCFF‐associated β‐actin G74S mutation

FEBS Letters, EarlyView.
The β‐actin G74S mutation causes altered interaction of actin with SETD3, reducing histidine‐73 methylation efficiency and forming two distinct actin variants. The variable ratio of these variants across cell types and developmental stages contributes to tissue‐specific phenotypical changes. This imbalance may impair actin dynamics and mechanosensitive
Anja Marquardt, Marcus S. Münchhoff, Jacqueline Krohn, Philip M. Palarz, Manuel H. Taft, Johannes N. Greve, Nataliya Di Donato, Falk F. R. Buettner, Dietmar J. Manstein   +8 more
wiley   +1 more source

Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience

Biomedicines
Arrhythmic risk stratification in patients with Lamin A/C gene (LMNA)-related cardiomyopathy influences clinical decisions. An implantable cardioverter defibrillator (ICD) should be considered in patients with an estimated 5-year risk of malignant ...
Cinzia Forleo, Maria Cristina Carella, Paolo Basile, Eugenio Carulli, Michele Luca Dadamo, Francesca Amati, Francesco Loizzi, Sandro Sorrentino, Ilaria Dentamaro, Marco Maria Dicorato, Stefano Ricci, Rosanna Bagnulo, Matteo Iacoviello, Vincenzo Ezio Santobuono, Carlo Caiati, Martino Pepe, Jean-Francois Desaphy, Marco Matteo Ciccone, Nicoletta Resta, Andrea Igoren Guaricci   +19 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