PMC Articles for MedGen (Select 163232) - PMC

George D Leikauf, Hannah Pope-Varsalona, Vincent J. Concel, Pengyuan Liu, Kiflai Bein, Kelly A. Brant, Richard A. Dopico, Y. Peter Di, An-Soo Jang, Maggie Dietsch, Mario Medvedovic, Qian Li, Louis J. Vuga, Naftali Kaminski, Ming You, Daniel R. Prows

Proc Am Thorac Soc. 2010 Jul 1; 7(4): 294–296. doi: 10.1513/pats.201001-005SM

PMCID:: PMC3136967

Abstract Article PDF–538K

Select item 10509904.

A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.

G S Pai, B Hane, M Joseph, R Nelson, L S Hammond, J F Arena, H A Lubs, R E Stevenson, C E Schwartz

J Med Genet. 1997 Jul; 34(7): 529–534. doi: 10.1136/jmg.34.7.529

PMCID:: PMC1050990

Summary Page Browse PDF–1.4M

Select item 3790985.

A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome

Sabine M. Klauck, Susan Lindsay, Kim S. Beyer, Miranda Splitt, John Burn, Annemarie Poustka

Am J Hum Genet. 2002 Apr; 70(4): 1034–1037. Published online 2002 Feb 15. doi: 10.1086/339553

PMCID:: PMC379098

Abstract Article PDF–169K

Select item 28363626.

Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

Garilyn M Jentarra, Shannon L Olfers, Stephen G Rice, Nishit Srivastava, Gregg E Homanics, Mary Blue, SakkuBai Naidu, Vinodh Narayanan

BMC Neurosci. 2010; 11: 19. Published online 2010 Feb 17. doi: 10.1186/1471-2202-11-19

PMCID:: PMC2836362

Abstract Article PDF–5.1M

Select item 110611037.

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

Trudi McDevitt, Miranda Durkie, Norbert Arnold, George J. Burghel, Samantha Butler, Kathleen B. M. Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume

Eur J Hum Genet. 2024 May; 32(5): 479–488. Published online 2024 Mar 5. doi: 10.1038/s41431-023-01507-5

PMCID:: PMC11061103

Abstract Article PDF–732K

Select item 110199838.

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases

Job A.J. Verdonschot, Debby M.E.I. Hellebrekers, Vanessa P.M. van Empel, Malou Heijligers, Sonja de Munnik, Edith Coonen, Jos C.M.F. Dreesen, Arthur van den Wijngaard, Han G. Brunner, Masoud Zamani Esteki, Stephane R.B. Heymans, Christine E.M. de Die-Smulders, Aimée D.C. Paulussen

Circ Genom Precis Med. 2024 Apr; 17(2): e004416. Published online 2024 Mar 22. doi: 10.1161/CIRCGEN.123.004416

PMCID:: PMC11019983

Abstract Article PDF–1.4M

Select item 84020099.

Effect of Imidazole as Corrosion Inhibitor on Carbon Steel Weldment in District Heating Water

Sang-Jin Ko, Seok-Ryul Choi, Min-Sung Hong, Woo-Cheol Kim, Jung-Gu Kim

Materials (Basel) 2021 Aug; 14(16): 4416. Published online 2021 Aug 6. doi: 10.3390/ma14164416

PMCID:: PMC8402009

Abstract Article PDF–3.7M

Select item 767442810.

Improved magnetostriction in Galfenol alloys by aligning crystal growth direction along easy magnetization axis

Chao Zhou, Yapeng Liu, Kaiyun Chen, Zhiyong Dai, Tianyu Ma, Yu Wang, Shuai Ren, Junkai Deng, Rui Zhang, Fanghua Tian, Yin Zhang, Hao Zeng, Sen Yang

Sci Rep. 2020; 10: 20055. Published online 2020 Nov 18. doi: 10.1038/s41598-020-77058-2

PMCID:: PMC7674428

Abstract Article PDF–2.5M

Select item 589729111.

Non-starch contents affect the susceptibility of banana starch and flour to ozonation

Yana Cahyana, Rosmala Titipanillah, Efri Mardawati, Een Sukarminah, Tita Rialita, Robi Andoyo, Mohamad Djali, In-In Hanidah, Imas Siti Setiasih, Kejora Handarini

J Food Sci Technol. 2018 May; 55(5): 1726–1733. Published online 2018 Mar 2. doi: 10.1007/s13197-018-3085-2

PMCID:: PMC5897291

Abstract Article PDF–603K

Select item 425485412.

ALLOSTERY AND SUBSTRATE CHANNELING IN THE TRYPTOPHAN SYNTHASE BIENZYME COMPLEX: EVIDENCE FOR TWO SUBUNIT CONFORMATIONS AND FOUR QUATERNARY STATES

Dimitri Niks, Eduardo Hilario, Adam Dierkers, Huu Ngo, Dan Borchardt, Thomas J. Neubauer, Li Fan, Leonard J. Mueller, Michael F. Dunn

Biochemistry. Author manuscript; available in PMC 2014 Dec 4.

Published in final edited form as: Biochemistry. 2013 Sep 17; 52(37): 6396–6411. Published online 2013 Sep 6. doi: 10.1021/bi400795e

PMCID:: PMC4254854

Abstract Article PDF–2.2M

Select item 384352613.

Complementary PLS and KNN algorithms for improved 3D-QSDAR consensus modeling of AhR binding

Svetoslav H Slavov, Bruce A Pearce, Dan A Buzatu, Jon G Wilkes, Richard D Beger

J Cheminform. 2013; 5: 47. Published online 2013 Nov 21. doi: 10.1186/1758-2946-5-47

PMCID:: PMC3843526

Abstract Article PDF–3.4M

Select item 124044214.

Human physiologic factors in respiratory uptake of 1,3-butadiene.

Y S Lin, T J Smith, K T Kelsey, D Wypij

Environ Health Perspect. 2001 Sep; 109(9): 921–926. doi: 10.1289/ehp.01109921

PMCID:: PMC1240442

Summary PDF–78K

Select item 103532515.

Nerve function in workers with long term exposure to trichloroethene.

M W Ruijten, M M Verberk, H J Sallé

Br J Ind Med. 1991 Feb; 48(2): 87–92. doi: 10.1136/oem.48.2.87

PMCID:: PMC1035325

Summary Page Browse PDF–960K

Select item 101212116.

Neuroendocrine effects in printing workers exposed to toluene.

B G Svensson, G Nise, E M Erfurth, H Olsson

Br J Ind Med. 1992 Jun; 49(6): 402–408. doi: 10.1136/oem.49.6.402

PMCID:: PMC1012121

Summary Page Browse PDF–958K

Select item 1116280917.

Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats

Yi-Ju Tseng, Amy Krans, Indranil Malik, Xiexiong Deng, Evrim Yildirim, Sinem Ovunc, Elizabeth M H Tank, Karen Jansen-West, Ross Kaufhold, Nicolas B Gomez, Roger Sher, Leonard Petrucelli, Sami J Barmada, Peter K Todd

Nucleic Acids Res. 2024 Jun 10; 52(10): 5928–5949. Published online 2024 Feb 27. doi: 10.1093/nar/gkae137

PMCID:: PMC11162809

Abstract Article PDF–2.2M

Select item 1116278518.

Structural snapshots of phenuivirus cap-snatching and transcription

Harry M Williams, Sigurdur R Thorkelsson, Dominik Vogel, Carola Busch, Morlin Milewski, Stephen Cusack, Kay Grünewald, Emmanuelle R J Quemin, Maria Rosenthal

Nucleic Acids Res. 2024 Jun 10; 52(10): 6049–6065. Published online 2024 May 6. doi: 10.1093/nar/gkae330

PMCID:: PMC11162785

Abstract Article PDF–2.3M

Select item 1116182919.

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart

Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Marc‐Phillip Hitz, Gregor Dombrowsky, Friederike Cuello, J. David Brook, Siobhan Loughna

J Anat. 2024 Jul; 245(1): 70–83. Published online 2024 Feb 28. doi: 10.1111/joa.14033

PMCID:: PMC11161829

Abstract Article PDF–5.8M

Select item 1116179620.

TMPRSS2-mediated SARS-CoV-2 uptake boosts innate immune activation, enhances cytopathology, and drives convergent virus evolution

Bingqian Qu, Csaba Miskey, André Gömer, Robin D. V. Kleinert, Sara Calvo Ibanez, Regina Eberle, Aileen Ebenig, Dylan Postmus, Maximilian K. Nocke, Maike Herrmann, Tabitha K. Itotia, Simon T. Herrmann, Natalie Heinen, Sebastian Höck, Florian D. Hastert, Christine von Rhein, Christoph Schürmann, Xue Li, Ger van Zandbergen, Marek Widera, Sandra Ciesek, Barbara S. Schnierle, Alexander W. Tarr, Eike Steinmann, Christine Goffinet, Stephanie Pfaender, Jacomina Krijnse Locker, Michael D. Mühlebach, Daniel Todt, Richard J. P. Brown

Proc Natl Acad Sci U S A. 2024 Jun 4; 121(23): e2407437121. Published online 2024 May 30. doi: 10.1073/pnas.2407437121

PMCID:: PMC11161796

Abstract Article PDF–2.5M

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