PMC Articles for MedGen (Select 1672905) - PMC

Select item 115819671.

Clinical characteristics of patients with P4HTM variant-associated epilepsy and therapeutic exploration: a case report and literature review

Yan-Juan Wang, Si-Xiu Li, Wen-Guang Hu, Li-Li Zhao, Mingping Lan, Jia-Lei Chen

Front Neurol. 2024; 15: 1428076. Published online 2024 Nov 8. doi: 10.3389/fneur.2024.1428076

PMCID:: PMC11581967

Article PDF–1.0M

Select item 114069822.

EsxA, a type VII secretion system-dependent effector, reveals a novel function in the sporulation of Bacillus cereus ATCC14579

Harvey K. Kamboyi, Atmika Paudel, Misheck Shawa, Misa Sugawara, Tuvshinzaya Zorigt, Joseph Y. Chizimu, Tomoe Kitao, Yoshikazu Furuta, Bernard M. Hang’ombe, Musso Munyeme, Hideaki Higashi

BMC Microbiol. 2024; 24: 351. Published online 2024 Sep 17. doi: 10.1186/s12866-024-03492-1

PMCID:: PMC11406982

Article PDF–4.6M

Select item 113102333.

Metabolic characteristics of transmembrane prolyl 4-hydroxylase (P4H-TM) deficient mice

Tuulia Ala-Nisula, Riikka Halmetoja, Henri Leinonen, Margareta Kurkela, Henna-Riikka Lipponen, Samuli Sakko, Mikko Karpale, Antti M. Salo, Niina Sissala, Tapio Röning, Ghulam S. Raza, Kari A. Mäkelä, Jérôme Thevenot, Karl-Heinz Herzig, Raisa Serpi, Johanna Myllyharju, Heikki Tanila, Peppi Koivunen, Elitsa Y. Dimova

Pflugers Arch. 2024; 476(9): 1339–1351. Published online 2024 Feb 24. doi: 10.1007/s00424-024-02920-5

PMCID:: PMC11310233

Article PDF–2.1M

Select item 108174344.

The Influence of Tanning Chemical Agents on DNA Degradation: A Robust Procedure for the Analysis of Tanned Animal Hide—A Pilot Study

Kristyna Hebenstreitova, Ondrej Salaba, Jakub Trubac, Jitka Kufnerova, Daniel Vanek

Life (Basel) 2024 Jan; 14(1): 147. Published online 2024 Jan 19. doi: 10.3390/life14010147

PMCID:: PMC10817434

Article PDF–2.6M

Select item 100734415.

HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome

J. Harvengt, A. Lumaka, C. Fasquelle, J. H. Caberg, M. Mastouri, A. Janssen, L. Palmeira, V. Bours

Front Genet. 2023; 14: 1137767. Published online 2023 Mar 22. doi: 10.3389/fgene.2023.1137767

PMCID:: PMC10073441

Article PDF–1.4M

Select item 98048086.

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein

Minna Kraatari‐Tiri, Leila Soikkonen, Matti Myllykoski, Yalda Jamshidi, Ehsan G. Karimiani, Jonna Komulainen‐Ebrahim, Hanna Kallankari, Cyril Mignot, Christel Depienne, Boris Keren, Marie‐Christine Nougues, Zahra Alsahlawi, Antonio Romito, Javier Martini, Mehran B. Toosi, Christopher J. Carroll, Kornelia Tripolszki, Peter Bauer, Johanna Uusimaa, Aida M. Bertoli‐Avella, Peppi Koivunen, Elisa Rahikkala

Clin Genet. 2022 Nov; 102(5): 444–450. Published online 2022 Aug 19. doi: 10.1111/cge.14203

PMCID:: PMC9804808

Article PDF–2.2M

Select item 84846257.

Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency

Eleanor Hay, Louise C. Wilson, Bethan Hoskins, Martin Samuels, Pinki Munot, Shamima Rahman

Eur J Hum Genet. 2021 Oct; 29(10): 1536–1541. Published online 2021 Jul 20. doi: 10.1038/s41431-021-00932-8

PMCID:: PMC8484625

Article PDF–564K

Select item 81119178.

Novel chromosomal insertions of ISEcp1-bla_CTX-M-15 and diverse antimicrobial resistance genes in Zambian clinical isolates of Enterobacter cloacae and Escherichia coli

Misheck Shawa, Yoshikazu Furuta, Gillan Mulenga, Maron Mubanga, Evans Mulenga, Tuvshinzaya Zorigt, Christone Kaile, Manyando Simbotwe, Atmika Paudel, Bernard Hang’ombe, Hideaki Higashi

Antimicrob Resist Infect Control. 2021; 10: 79. Published online 2021 May 10. doi: 10.1186/s13756-021-00941-8

PMCID:: PMC8111917

Article PDF–1.8M

Select item 79485019.

Structure of transmembrane prolyl 4-hydroxylase reveals unique organization of EF and dioxygenase domains

Matti Myllykoski, Aleksi Sutinen, M. Kristian Koski, Juha P. Kallio, Arne Raasakka, Johanna Myllyharju, Rik K. Wierenga, Peppi Koivunen

J Biol Chem. 2021 Jan-Jun; 296: 100197. Published online 2020 Dec 20. doi: 10.1074/jbc.RA120.016542

PMCID:: PMC7948501

Article PDF–4.8M

Select item 677499910.

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, Päivi Vieira, Naemeh Nayebzadeh, Simone Weiss, Astrid S. Plomp, Reginald E. Bittner, Mitja I. Kurki, Outi Kuismin, Andrea M. Lewis, Marja-Leena Väisänen, Hannaleena Kokkonen, Jonne Westermann, Günther Bernert, Hannu Tuominen, Aarno Palotie, Lauri Aaltonen, Yaping Yang, Lorraine Potocki, Jukka Moilanen, Silvana van Koningsbruggen, Xia Wang, Wolfgang M. Schmidt, Peppi Koivunen, Johanna Uusimaa

Genet Med. 2019; 21(10): 2355–2363. Published online 2019 Apr 3. doi: 10.1038/s41436-019-0503-4

PMCID:: PMC6774999

Article PDF–693K

Select item 574414611.

Characterization of a Novel Bat Adenovirus Isolated from Straw-Colored Fruit Bat (Eidolon helvum)

Hirohito Ogawa, Masahiro Kajihara, Naganori Nao, Asako Shigeno, Daisuke Fujikura, Bernard M. Hang’ombe, Aaron S. Mweene, Alisheke Mutemwa, David Squarre, Masao Yamada, Hideaki Higashi, Hirofumi Sawa, Ayato Takada

Viruses. 2017 Dec; 9(12): 371. Published online 2017 Dec 4. doi: 10.3390/v9120371

PMCID:: PMC5744146

Article PDF–2.5M

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