Results 31 to 40 of about 687,041 (305)

A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration

Molecular Genetics & Genomic Medicine, 2021
Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12.
Stuart Fraser, Mary Koenig, Laura Farach, Pedro Mancias, Kate Mowrey   +4 more
doaj   +1 more source

LncRNA-Top: Controlled deep learning approaches for lncRNA gene regulatory relationship annotations across different platforms

iScience, 2023
Summary: By soaking microRNAs (miRNAs), long non-coding RNAs (lncRNAs) have the potential to regulate gene expression. Few methods have been created based on this mechanism to anticipate the lncRNA-gene relationship prediction.
Weidun Xie, Xingjian Chen, Zetian Zheng, Fuzhou Wang, Xiaowei Zhu, Qiuzhen Lin, Yanni Sun, Ka-Chun Wong   +7 more
doaj   +1 more source

Molecular mechanism of androgen receptor mutation in multigenerational mild androgen insensitivity syndrome

Endocrine Connections
Objective: Androgen insensitivity syndrome (AIS) due to androgen receptor (AR) mutations creates a spectrum of clinical presentations based on residual AR function with the mildest impairment creating mild AIS (MAIS) whose undefined molecular mechanism ...
Ravind Pandher, Ruby Chang, Yiqun Chang, David E Hibbs, Jonathan J Du, Kristine McGrath, Alison Heather, Veena Jayadev, David J Handelsman   +8 more
doaj   +1 more source

Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives

Molecular Genetics & Genomic Medicine, 2020
Background With the implementation of a research project providing whole genome sequencing (WGS) to all pediatric cancer patients in Denmark (2016–2019), we sought to investigate healthcare professionals' views on WGS as it was actively being implemented
Anna Byrjalsen, Ulrik K. Stoltze, Anders Castor, Ayo Wahlberg   +3 more
doaj   +1 more source

Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families [PDF]

, 2008
Genetics & HereditySCI(E)0LETTER4391 ...
Zhai, S. Q., Liu, X Z, Feng, G Y, Angeli, S, Qin, W., Wang, Y. F., Feng, L, Feng, G. Y., Yang, S. Z., Han, D Y, Tao, R., Liu, X. Z., Yan, D., Ouyang, X. M., Yang, W Y, Yuan, H. J., Yang, S Z, Qin, W, Ouyang, X M, Dai, P, Yan, D, Yang, W. Y., Sun, H. J., Yuan, H J, Cheng, J, Feng, L., Cao, J. Y., Wang, Y F, Zhai, S Q, Sun, Q., He, L., Angeli, S., Sun, Q, Cao, J Y, Dai, P., Sun, H J, Han, D. Y., Cheng, J., Tao, R, He, L   +39 more
core   +1 more source

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant

Frontiers in Pediatrics
This case report presents two Ecuadorian patients with Rothmund-Thomson syndrome type 2 (RTS2), an autosomal recessive disorder, who share a RECQL4 variant previously identified in another Ecuadorian patient, supporting the recurrent presence of this ...
Martina Isabella Armas Samaniego, Mateo Briones Vasquez, Mel Mariño Zambrano, Vanessa I. Romero, Vanessa I. Romero, Karen Melo, Juan Carlos Pozo-Palacios   +6 more
doaj   +1 more source

Clinical genetics in cardiology [PDF]

Heart, 2006
The recent and rapid development of molecular genetics in cardiovascular diseases has created a new understanding of their pathogenesis and natural history, and also new possibilities for the diagnosis of these genetic disorders through genetic testing.
openaire   +2 more sources

Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations

iScience, 2021
Summary: A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized.
Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Igor V. Peshenko, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Arun K. Krishnan, Rebecca Sheplock, Sanford L. Boye, Alexander M. Dizhoor, Shannon E. Boye   +12 more
doaj   +1 more source

variant causes a lethal mitochondrial disease with progeria‐like phenotypes [PDF]

, 2023
APOO/MIC26 is a subunit of the MICOS complex required for mitochondrial cristae morphology and function. Here, we report a novel variant of the APOO/MIC26 gene that causes a severe mitochondrial disease with overall progeria-like phenotypes in two ...
Melissa Lubeck, Nemer, Georges M., Reichert, Andreas S., Lubeck, Melissa, Anand, Ruchika, Arun Kumar Kondadi, Kondadi, Arun Kumar, Leon Peifer‐Weiß, Andreas S. Reichert, Mazen Kurban, Peifer-Weiss, Leon, David, Céline, Georges Nemer, Céline David, Kurban, Mazen S., Ruchika Anand   +15 more
core   +1 more source

Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms

iScience, 2022
Summary: We carried out a genome-wide association analysis including 51,194 cases of hypothyroidism and 443,383 controls. In total, 139 risk loci were associated to hypothyroidism with genes involved in lymphocyte function.
Samuel Mathieu, Mewen Briend, Erik Abner, Christian Couture, Zhonglin Li, Yohan Bossé, Sébastien Thériault, Tõnu Esko, Benoit J. Arsenault, Patrick Mathieu   +9 more
doaj   +1 more source