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Select item 57375891.

Gene correction of HAX1 reversed Kostmann disease phenotype in patient-specific induced pluripotent stem cells

Erik Pittermann, Nico Lachmann, Glenn MacLean, Stephan Emmrich, Mania Ackermann, Gudrun Göhring, Brigitte Schlegelberger, Karl Welte, Axel Schambach, Dirk Heckl, Stuart H. Orkin, Tobias Cantz, Jan-Henning Klusmann

Blood Adv. 2017 Jun 13; 1(14): 903–914. Published online 2017 Jun 2. doi: 10.1182/bloodadvances.2016003798

PMCID:: PMC5737589

Abstract Article PDF–2.3M

Select item 66476232.

A Case of Papillary Thyroid Carcinoma and Kostmann Syndrome: A Genomic Theranostic Approach for Comprehensive Treatment

Soo Han, John Ehrhardt, Jr., Savya Shukla, Adel Elkbuli, Yuri E. Nikiforov, Seza A. Gulec

Am J Case Rep. 2019; 20: 1027–1034. Published online 2019 Jul 16. doi: 10.12659/AJCR.916143

PMCID:: PMC6647623

Abstract Article PDF–1.5M

Select item 77678193.

Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review

Baiyu Lyu, Wei Lyu, Xiaoying Zhang

Front Pediatr. 2020; 8: 586859. Published online 2020 Dec 14. doi: 10.3389/fped.2020.586859

PMCID:: PMC7767819

Abstract Article PDF–366K

Select item 93863374.

A Rare Case of Kostmann Syndrome Presenting Difficult Airway Challenges and Patient Preparedness for Anesthesiologists

Vamsi Krishna Uppalapati, Ashok Chattoraj, Deb Sanjay Nag, Himanshu Kumar, Sharad Kumar

Cureus. 2022 Jul; 14(7): e26996. Published online 2022 Jul 18. doi: 10.7759/cureus.26996

PMCID:: PMC9386337

Abstract Article PDF–448K

Select item 393495.

The control of hematopoiesis and leukemia: from basic biology to the clinic.

L Sachs

Proc Natl Acad Sci U S A. 1996 May 14; 93(10): 4742–4749. doi: 10.1073/pnas.93.10.4742

PMCID:: PMC39349

Summary Page Browse PDF–2.0M

Select item 67304466.

Early Expression of Sodium Channel Transcripts and Sodium Current by Cajal-Retzius Cells in the Preplate of the Embryonic Mouse Neocortex

Mireille Albrieux, Jean-Claude Platel, Alain Dupuis, Michel Villaz, William J. Moody

J Neurosci. 2004 Feb 18; 24(7): 1719–1725. doi: 10.1523/JNEUROSCI.3548-02.2004

PMCID:: PMC6730446

Abstract Article PDF–306K

Select item 43202607.

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Søren W. Gersting, Ania C. Muntau, Aleksandar Rakovic, G. Herma Renkema, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, M. Estela Rubio-Gozalbo, Elzbieta Chrusciel, Felix Distelmaier, Christelle Golzio, Joop H. Jansen, Clara van Karnebeek, Yolanda Lillquist, Thomas Lücke, Katrin Õunap, Riina Zordania, Joy Yaplito-Lee, Hans van Bokhoven, Johannes N. Spelbrink, Frédéric M. Vaz, Mia Pras-Raves, Rafal Ploski, Ewa Pronicka, Christine Klein, Michel A.A.P. Willemsen, Arjan P.M. de Brouwer, Holger Prokisch, Nicholas Katsanis, Ron A. Wevers

Am J Hum Genet. 2015 Feb 5; 96(2): 245–257. doi: 10.1016/j.ajhg.2014.12.013

PMCID:: PMC4320260

Abstract Article PDF–1.3M

Select item 78394518.

Severe congenital neutropenia‐associated JAGN1 mutations unleash a calpain‐dependent cell death programme in myeloid cells

Avinash Khandagale, Teresa Holmlund, Miriam Entesarian, Daniel Nilsson, Krzysztof Kalwak, Maja Klaudel‐Dreszler, Göran Carlsson, Jan‐Inge Henter, Magnus Nordenskjöld, Bengt Fadeel

Br J Haematol. 2021 Jan; 192(1): 200–211. Published online 2020 Nov 18. doi: 10.1111/bjh.17137

PMCID:: PMC7839451

Abstract Article PDF–1.2M

Select item 42534709.

Na⁺ current properties in islet α- and β-cells reflect cell-specific Scn3a and Scn9a expression

Quan Zhang, Margarita V Chibalina, Martin Bengtsson, Lukas N Groschner, Reshma Ramracheya, Nils J G Rorsman, Veronika Leiss, Mohammed A Nassar, Andrea Welling, Fiona M Gribble, Frank Reimann, Franz Hofmann, John N Wood, Frances M Ashcroft, Patrik Rorsman

J Physiol. 2014 Nov 1; 592(Pt 21): 4677–4696. Published online 2014 Oct 31. doi: 10.1113/jphysiol.2014.274209

PMCID:: PMC4253470

Abstract Article PDF–1.8M

Select item 359936710.

New clinical and molecular insights on Barth syndrome

Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, Sabrina Malvagia, Serena Catarzi, Licia Lugli, Luca Ragni, Enrico Bertini, Frédéréc M Vaz, David N Cooper, Renzo Guerrini, Amelia Morrone

Orphanet J Rare Dis. 2013; 8: 27. Published online 2013 Feb 14. doi: 10.1186/1750-1172-8-27

PMCID:: PMC3599367

Abstract Article PDF–957K

Select item 951354811.

Inborn errors of immunity and related microbiome

Raja Hazime, Fatima-Ezzohra Eddehbi, Saad El Mojadili, Nadia Lakhouaja, Ikram Souli, Abdelmouïne Salami, Bouchra M’Raouni, Imane Brahim, Mohamed Oujidi, Morad Guennouni, Ahmed Aziz Bousfiha, Brahim Admou

Front Immunol. 2022; 13: 982772. Published online 2022 Sep 13. doi: 10.3389/fimmu.2022.982772

PMCID:: PMC9513548

Abstract Article PDF–492K

Select item 272195712.

Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden

M Melin, M Entesarian, G Carlsson, D Garwicz, C Klein, B Fadeel, M Nordenskjöld, J Palmblad, JI Henter, N Dahl

Biochem Biophys Res Commun. Author manuscript; available in PMC 2009 Aug 6.

Published in final edited form as: Biochem Biophys Res Commun. 2007 Feb 16; 353(3): 571–575. Published online 2006 Dec 20. doi: 10.1016/j.bbrc.2006.12.086