PMC Links for OMIM (Select 611170) - PMC

Select item 89284201.

New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

Marc Corral-Juan, Pilar Casquero, Natalia Giraldo-Restrepo, Steve Laurie, Alicia Martinez-Piñeiro, Raidili Cristina Mateo-Montero, Lourdes Ispierto, Dolores Vilas, Eduardo Tolosa, Victor Volpini, Ramiro Alvarez-Ramo, Ivelisse Sánchez, Antoni Matilla-Dueñas

Brain Commun. 2022; 4(2): fcac030. Published online 2022 Feb 10. doi: 10.1093/braincomms/fcac030

PMCID:: PMC8928420

Abstract Article PDF–2.0M

Select item 62510082.

Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes

Yasunobu Nagata, Satoshi Narumi, Yihong Guan, Bartlomiej P. Przychodzen, Cassandra M. Hirsch, Hideki Makishima, Hirohito Shima, Mai Aly, Victor Pastor, Teodora Kuzmanovic, Tomas Radivoyevitch, Vera Adema, Hassan Awada, Kenichi Yoshida, Samuel Li, Francesc Sole, Rabi Hanna, Babal K. Jha, Thomas LaFramboise, Seishi Ogawa, Mikkael A. Sekeres, Marcin W. Wlodarski, Jörg Cammenga, Jaroslaw P. Maciejewski

Blood. 2018 Nov 22; 132(21): 2309–2313. Prepublished online 2018 Oct 15. doi: 10.1182/blood-2017-05-787390

PMCID:: PMC6251008

Article

Select item 61243953.

Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes

Jasmine C. Wong, Victoria Bryant, Tamara Lamprecht, Jing Ma, Michael Walsh, Jason Schwartz, Maria del pilar Alzamora, Charles G. Mullighan, Mignon L. Loh, Raul Ribeiro, James R. Downing, William L. Carroll, Jeffrey Davis, Stuart Gold, Paul C. Rogers, Sara Israels, Rochelle Yanofsky, Kevin Shannon, Jeffery M. Klco

JCI Insight. 2018 Jul 26; 3(14): e121086. Published online 2018 Jul 25. doi: 10.1172/jci.insight.121086

PMCID:: PMC6124395

Abstract Article PDF–890K

Select item 56911444.

The genomic landscape of pediatric myelodysplastic syndromes

Jason R. Schwartz, Jing Ma, Tamara Lamprecht, Michael Walsh, Shuoguo Wang, Victoria Bryant, Guangchun Song, Gang Wu, John Easton, Chimene Kesserwan, Kim E. Nichols, Charles G. Mullighan, Raul C. Ribeiro, Jeffery M. Klco

Nat Commun. 2017; 8: 1557. Published online 2017 Nov 16. doi: 10.1038/s41467-017-01590-5

PMCID:: PMC5691144

Abstract Article PDF–1.8M

Select item 53994825.

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Bianca Tesi, Josef Davidsson, Matthias Voss, Elisa Rahikkala, Tim D. Holmes, Samuel C. C. Chiang, Jonna Komulainen-Ebrahim, Sorina Gorcenco, Alexandra Rundberg Nilsson, Tim Ripperger, Hannaleena Kokkonen, David Bryder, Thoas Fioretos, Jan-Inge Henter, Merja Möttönen, Riitta Niinimäki, Lars Nilsson, Cornelis Jan Pronk, Andreas Puschmann, Hong Qian, Johanna Uusimaa, Jukka Moilanen, Ulf Tedgård, Jörg Cammenga, Yenan T. Bryceson

Blood. 2017 Apr 20; 129(16): 2266–2279. Prepublished online 2017 Feb 15. doi: 10.1182/blood-2016-10-743302

PMCID:: PMC5399482

Abstract Article

Select item 49081766.

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

Dong-Hui Chen, Jennifer E. Below, Akiko Shimamura, Sioban B. Keel, Mark Matsushita, John Wolff, Youngmee Sul, Emily Bonkowski, Maria Castella, Toshiyasu Taniguchi, Deborah Nickerson, Thalia Papayannopoulou, Thomas D. Bird, Wendy H. Raskind

Am J Hum Genet. 2016 Jun 2; 98(6): 1146–1158. Published online 2016 Jun 2. doi: 10.1016/j.ajhg.2016.04.009

PMCID:: PMC4908176

Abstract Article PDF–1.7M

Select item 31739437.

The Samd9L Gene: Transcriptional Regulation and Tissue-Specific Expression in Mouse Development

Qiujie Jiang, Benjamin Quaynor, Alex Sun, Qiaoli Li, Hirotaka Matsui, Hiroaki Honda, Toshiya Inaba, Eli Sprecher, Jouni Uitto

J Invest Dermatol. Author manuscript; available in PMC 2012 Jan 1.

Published in final edited form as: J Invest Dermatol. 2011 Jul; 131(7): 1428–1434. Published online 2011 Mar 17. doi: 10.1038/jid.2011.61

PMCID:: PMC3173943

Abstract Article PDF–1.0M

Select item 18553258.

Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse

Catherine F Li, Jeffrey R MacDonald, Robert Y Wei, Jocelyn Ray, Kimberly Lau, Christopher Kandel, Rachel Koffman, Sherilyn Bell, Stephen W Scherer, Benjamin A Alman

BMC Genomics. 2007; 8: 92. Published online 2007 Apr 3. doi: 10.1186/1471-2164-8-92

PMCID:: PMC1855325

Abstract Article PDF–1.0M

Select item 3297459.

Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7.

K M Shannon, A G Turhan, S S Chang, A M Bowcock, P C Rogers, W L Carroll, M J Cowan, B E Glader, C J Eaves, A C Eaves, et al.

J Clin Invest. 1989 Sep; 84(3): 984–989. doi: 10.1172/JCI114262

PMCID:: PMC329745

Summary Page Browse PDF–1.3M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from OMIM

Items: 9

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity