Human molecular genetics

Keyphrases

Publications

volume 33, number 8, 2024

Yuanyuan Li, Chan Xu, Feng Zhao, Qinghong Liu, Xiaojian Qiu, Min Li, Yonghui Yang, Shentong Yu, Huajuan Tong, Lifang Zhang, Bing Chen, Lijuan Qu, Zihua Yu
Podocyte-specific Nup160 knockout mice develop nephrotic syndrome and glomerulosclerosis. Human molecular genetics 33 (8) (2024)
Cristina Fortuno, Kyriaki Michailidou, Michael Parsons, Jill S Dolinsky, Tina Pesaran, Amal Yussuf, Jessica L Mester, Kathleen S Hruska, Susan Hiraki, Robert O'Connor, Raymond C Chan, Serra Kim, Sean V Tavtigian, David Goldgar, Paul A James, Amanda B Spurdle
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Human molecular genetics 33 (8) (2024)
Jingxian Tang, Hanfei Xu, Zihao Xin, Quanshun Mei, Musong Gao, Tiantian Yang, Xiaoyu Zhang, Daniel Levy, Ching-Ti Liu
Identifying BMI-associated genes via a genome-wide multi-omics integrative approach using summary data. Human molecular genetics 33 (8) (2024)
Chao-Jen Wong, Seth D Friedman, Lauren Snider, Sean R Bennett, Takako I Jones, Peter L Jones, Dennis W W Shaw, Silvia S Blemker, Lara Riem, Olivia DuCharme, Richard J L F Lemmers, Silvère M van der Maarel, Leo H Wang, Rabi Tawil, Jeffrey M Statland, Stephen J Tapscott
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression. Human molecular genetics 33 (8) (2024)
Yuanyuan Li, Chan Xu, Feng Zhao, Qinghong Liu, Xiaojian Qiu, Min Li, Yonghui Yang, Shentong Yu, Huajuan Tong, Lifang Zhang, Bing Chen, Lijuan Qu, Zihua Yu
Podocyte-specific Nup160 knockout mice develop nephrotic syndrome and glomerulosclerosis. Human molecular genetics 33 (8) (2024)
Brittany F Karas, Kristin R Terez, Shorbon Mowla, Namarata Battula, Kyle P Flannery, Brian M Gural, Grace Aboussleman, Numa Mubin, M Chiara Manzini
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes. Human molecular genetics 33 (8) (2024)
Jingxian Tang, Hanfei Xu, Zihao Xin, Quanshun Mei, Musong Gao, Tiantian Yang, Xiaoyu Zhang, Daniel Levy, Ching-Ti Liu
Identifying BMI-associated genes via a genome-wide multi-omics integrative approach using summary data. Human molecular genetics 33 (8) (2024)

volume 33, number 9, 2024

Beatriz Fernández-Varas, Cristina Manguan-García, Javier Rodriguez-Centeno, Lucía Mendoza-Lupiáñez, Joaquin Calatayud, Rosario Perona, Mercedes Martín-Martínez, Marta Gutierrez-Rodriguez, Carlos Benítez-Buelga, Leandro Sastre
Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity. Human molecular genetics 33 (9) (2024)
Connor J Greatbatch, Qinyi Lu, Sandy Hung, Alexander J Barnett, Kristof Wing, Helena Liang, Xikun Han, Tiger Zhou, Owen M Siggs, David A Mackey, Anthony L Cook, Anne Senabouth, Guei-Sheung Liu, Jamie E Craig, Stuart MacGregor, Joseph E Powell, Alex W Hewitt
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma. Human molecular genetics 33 (9) (2024)
Jeremy McCallum-Loudeac, Edward Moody, Jack Williams, Georgia Johnstone, Kathleen J Sircombe, Andrew N Clarkson, Megan J Wilson
Deletion of a conserved genomic region associated with adolescent idiopathic scoliosis leads to vertebral rotation in mice. Human molecular genetics 33 (9) (2024)
Beatriz Fernández-Varas, Cristina Manguan-García, Javier Rodriguez-Centeno, Lucía Mendoza-Lupiáñez, Joaquin Calatayud, Rosario Perona, Mercedes Martín-Martínez, Marta Gutierrez-Rodriguez, Carlos Benítez-Buelga, Leandro Sastre
Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity. Human molecular genetics 33 (9) (2024)
Beatriz Fernández-Varas, Cristina Manguan-García, Javier Rodriguez-Centeno, Lucía Mendoza-Lupiáñez, Joaquin Calatayud, Rosario Perona, Mercedes Martín-Martínez, Marta Gutierrez-Rodriguez, Carlos Benítez-Buelga, Leandro Sastre
Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity. Human molecular genetics 33 (9) (2024)
Nanxi Huang, Qiaochu Wang, Robert B Bernard, Chao-Yang Chen, Je-Ming Hu, Jehng-Kang Wang, Khee-Siang Chan, Michael D Johnson, Chen-Yong Lin
SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation. Human molecular genetics 33 (9) (2024)
Rawaa Aljammal, Thamaraiselvi Saravanan, Tongju Guan, Scott Rhodes, Michael A Robichaux, Visvanathan Ramamurthy
Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity. Human molecular genetics 33 (9) (2024)
Connor J Greatbatch, Qinyi Lu, Sandy Hung, Alexander J Barnett, Kristof Wing, Helena Liang, Xikun Han, Tiger Zhou, Owen M Siggs, David A Mackey, Anthony L Cook, Anne Senabouth, Guei-Sheung Liu, Jamie E Craig, Stuart MacGregor, Joseph E Powell, Alex W Hewitt
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma. Human molecular genetics 33 (9) (2024)
Jeremy McCallum-Loudeac, Edward Moody, Jack Williams, Georgia Johnstone, Kathleen J Sircombe, Andrew N Clarkson, Megan J Wilson
Deletion of a conserved genomic region associated with adolescent idiopathic scoliosis leads to vertebral rotation in mice. Human molecular genetics 33 (9) (2024)
Nanxi Huang, Qiaochu Wang, Robert B Bernard, Chao-Yang Chen, Je-Ming Hu, Jehng-Kang Wang, Khee-Siang Chan, Michael D Johnson, Chen-Yong Lin
SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation. Human molecular genetics 33 (9) (2024)
Paola Zanfardino, Alessandro Amati, Stefano Doccini, Sharon N Cox, Apollonia Tullo, Giovanna Longo, Annamaria D'Erchia, Ernesto Picardi, Claudia Nesti, Filippo Maria Santorelli, Vittoria Petruzzella
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts. Human molecular genetics 33 (9) (2024)

volume 33, number R1, 2024

Stephen P Burr, Patrick F Chinnery
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease. Human molecular genetics 33 (R1) (2024)
Lidiia Koludarova, Brendan J Battersby
Mitochondrial protein synthesis quality control. Human molecular genetics 33 (R1) (2024)
Erik McShane, L Stirling Churchman
Central dogma rates in human mitochondria. Human molecular genetics 33 (R1) (2024)
Laura S Kremer, Peter Rehling
Coordinating mitochondrial translation with assembly of the OXPHOS complexes. Human molecular genetics 33 (R1) (2024)
Carlos Torres Moraes
Tools for editing the mammalian mitochondrial genome. Human molecular genetics 33 (R1) (2024)
Giulia Santonoceto, Aneta Jurkiewicz, Roman J Szczesny
RNA degradation in human mitochondria: the journey is not finished. Human molecular genetics 33 (R1) (2024)
Jordyn J VanPortfliet, Cole Chute, Yuanjiu Lei, Timothy E Shutt, Andrew Phillip West
Mitochondrial DNA release and sensing in innate immune responses. Human molecular genetics 33 (R1) (2024)
Laura S Kremer, Peter Rehling
Coordinating mitochondrial translation with assembly of the OXPHOS complexes. Human molecular genetics 33 (R1) (2024)
Lidiia Koludarova, Brendan J Battersby
Mitochondrial protein synthesis quality control. Human molecular genetics 33 (R1) (2024)
Annika Krueger, Daria Kovalchuk, Dmitrii Shiriaev, Joanna Rorbach
Decoding the Enigma: Translation Termination in Human Mitochondria. Human molecular genetics 33 (R1) (2024)
Laetitia A Hughes, Oliver Rackham, Aleksandra Filipovska
Illuminating mitochondrial translation through mouse models. Human molecular genetics 33 (R1) (2024)
Annika Krueger, Daria Kovalchuk, Dmitrii Shiriaev, Joanna Rorbach
Decoding the Enigma: Translation Termination in Human Mitochondria. Human molecular genetics 33 (R1) (2024)
Laetitia A Hughes, Oliver Rackham, Aleksandra Filipovska
Illuminating mitochondrial translation through mouse models. Human molecular genetics 33 (R1) (2024)
Chenxiao Yu, Samieh Asadian, Marco Tigano
Molecular and cellular consequences of mitochondrial DNA double-stranded breaks. Human molecular genetics 33 (R1) (2024)
Chenxiao Yu, Samieh Asadian, Marco Tigano
Molecular and cellular consequences of mitochondrial DNA double-stranded breaks. Human molecular genetics 33 (R1) (2024)
Erik McShane, L Stirling Churchman
Central dogma rates in human mitochondria. Human molecular genetics 33 (R1) (2024)
Jordyn J VanPortfliet, Cole Chute, Yuanjiu Lei, Timothy E Shutt, Andrew Phillip West
Mitochondrial DNA release and sensing in innate immune responses. Human molecular genetics 33 (R1) (2024)
Erik McShane, L Stirling Churchman
Central dogma rates in human mitochondria. Human molecular genetics 33 (R1) (2024)
Annika Krueger, Daria Kovalchuk, Dmitrii Shiriaev, Joanna Rorbach
Decoding the Enigma: Translation Termination in Human Mitochondria. Human molecular genetics 33 (R1) (2024)
Eric A Shoubridge, Antoni Barrientos
Mitochondrial molecular genetics and human disease. Human molecular genetics 33 (R1) (2024)
Laetitia A Hughes, Oliver Rackham, Aleksandra Filipovska
Illuminating mitochondrial translation through mouse models. Human molecular genetics 33 (R1) (2024)
Ana Vučković, Christoph Freyer, Anna Wredenberg, Hauke S Hillen
The molecular machinery for maturation of primary mtDNA transcripts. Human molecular genetics 33 (R1) (2024)
Stephen P Burr, Patrick F Chinnery
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease. Human molecular genetics 33 (R1) (2024)
Ana Vučković, Christoph Freyer, Anna Wredenberg, Hauke S Hillen
The molecular machinery for maturation of primary mtDNA transcripts. Human molecular genetics 33 (R1) (2024)
Stephen P Burr, Patrick F Chinnery
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease. Human molecular genetics 33 (R1) (2024)
Ana Vučković, Christoph Freyer, Anna Wredenberg, Hauke S Hillen
The molecular machinery for maturation of primary mtDNA transcripts. Human molecular genetics 33 (R1) (2024)
Carlos Torres Moraes
Tools for editing the mammalian mitochondrial genome. Human molecular genetics 33 (R1) (2024)
Giulia Santonoceto, Aneta Jurkiewicz, Roman J Szczesny
RNA degradation in human mitochondria: the journey is not finished. Human molecular genetics 33 (R1) (2024)
Chenxiao Yu, Samieh Asadian, Marco Tigano
Molecular and cellular consequences of mitochondrial DNA double-stranded breaks. Human molecular genetics 33 (R1) (2024)
Lidiia Koludarova, Brendan J Battersby
Mitochondrial protein synthesis quality control. Human molecular genetics 33 (R1) (2024)
Laura S Kremer, Peter Rehling
Coordinating mitochondrial translation with assembly of the OXPHOS complexes. Human molecular genetics 33 (R1) (2024)
Jordyn J VanPortfliet, Cole Chute, Yuanjiu Lei, Timothy E Shutt, Andrew Phillip West
Mitochondrial DNA release and sensing in innate immune responses. Human molecular genetics 33 (R1) (2024)