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Items: 1 to 50 of 64

1.

LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases.

Abe T, Umeki I, Kanno SI, Inoue SI, Niihori T, Aoki Y.

Cell Death Differ. 2019 Jul 23. doi: 10.1038/s41418-019-0395-5. [Epub ahead of print]

PMID:
31337872
2.

Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.

Shoji Y, Ida S, Niihori T, Aoki Y, Okamoto N, Etani Y, Kawai M.

Endocr J. 2019 Jul 10. doi: 10.1507/endocrj.EJ18-0564. [Epub ahead of print]

3.

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.

Niihori T, Nagai K, Fujita A, Ohashi H, Okamoto N, Okada S, Harada A, Kihara H, Arbogast T, Funayama R, Shirota M, Nakayama K, Abe T, Inoue SI, Tsai IC, Matsumoto N, Davis EE, Katsanis N, Aoki Y.

Am J Hum Genet. 2019 Jun 6;104(6):1233-1240. doi: 10.1016/j.ajhg.2019.04.014. Epub 2019 May 23.

PMID:
31130285
4.

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.

Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S.

Ann Neurol. 2019 Jun;85(6):927-933. doi: 10.1002/ana.25481. Epub 2019 Apr 25.

PMID:
30945334
5.

New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.

Takahara S, Inoue SI, Miyagawa-Tomita S, Matsuura K, Nakashima Y, Niihori T, Matsubara Y, Saiki Y, Aoki Y.

EBioMedicine. 2019 Apr;42:43-53. doi: 10.1016/j.ebiom.2019.03.014. Epub 2019 Mar 18.

6.

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.

Suzuki-Muromoto S, Miyabayashi T, Nagai K, Yamamura-Suzuki S, Anzai M, Takezawa Y, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kikuchi A, Niihori T, Aoki Y, Kure S, Haginoya K.

J Hum Genet. 2019 May;64(5):499-504. doi: 10.1038/s10038-019-0579-3. Epub 2019 Mar 6.

PMID:
30842599
7.

Biallelic GALM pathogenic variants cause a novel type of galactosemia.

Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S.

Genet Med. 2019 Jun;21(6):1286-1294. doi: 10.1038/s41436-018-0340-x. Epub 2018 Oct 19.

PMID:
30451973
8.

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

Umeki I, Niihori T, Abe T, Kanno SI, Okamoto N, Mizuno S, Kurosawa K, Nagasaki K, Yoshida M, Ohashi H, Inoue SI, Matsubara Y, Fujiwara I, Kure S, Aoki Y.

Hum Genet. 2019 Jan;138(1):21-35. doi: 10.1007/s00439-018-1951-7. Epub 2018 Oct 27.

PMID:
30368668
9.

Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.

Takezawa Y, Fujie H, Kikuchi A, Niihori T, Funayama R, Shirota M, Nakayama K, Aoki Y, Sasaki M, Kure S.

Brain Dev. 2018 Nov;40(10):934-938. doi: 10.1016/j.braindev.2018.06.010. Epub 2018 Jul 2.

PMID:
30041933
10.

Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death.

Tamura A, Uemura S, Matsubara K, Kozuki E, Tanaka T, Nino N, Yokoi T, Saito A, Ishida T, Hasegawa D, Umeki I, Niihori T, Nakazawa Y, Koike K, Aoki Y, Kosaka Y.

Clin Case Rep. 2018 May 8;6(7):1202-1207. doi: 10.1002/ccr3.1568. eCollection 2018 Jul.

11.

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F.

Nat Commun. 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w.

12.

Genomic analysis identifies masqueraders of full-term cerebral palsy.

Takezawa Y, Kikuchi A, Haginoya K, Niihori T, Numata-Uematsu Y, Inui T, Yamamura-Suzuki S, Miyabayashi T, Anzai M, Suzuki-Muromoto S, Okubo Y, Endo W, Togashi N, Kobayashi Y, Onuma A, Funayama R, Shirota M, Nakayama K, Aoki Y, Kure S.

Ann Clin Transl Neurol. 2018 Mar 26;5(5):538-551. doi: 10.1002/acn3.551. eCollection 2018 May.

13.

Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation.

Nakamura H, Uematsu M, Numata-Uematsu Y, Abe Y, Endo W, Kikuchi A, Takezawa Y, Funayama R, Shirota M, Nakayama K, Niihori T, Aoki Y, Haginoya K, Kure S.

Brain Dev. 2018 May;40(5):410-414. doi: 10.1016/j.braindev.2017.12.015. Epub 2018 Feb 1.

PMID:
29395664
14.

Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis.

Oba D, Inoue SI, Miyagawa-Tomita S, Nakashima Y, Niihori T, Yamaguchi S, Matsubara Y, Aoki Y.

EBioMedicine. 2018 Jan;27:138-150. doi: 10.1016/j.ebiom.2017.11.029. Epub 2017 Dec 6.

15.

Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.

Inoue SI, Takahara S, Yoshikawa T, Niihori T, Yanai K, Matsubara Y, Aoki Y.

Hum Mol Genet. 2017 Dec 1;26(23):4715-4727. doi: 10.1093/hmg/ddx354.

PMID:
28973166
16.

Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation.

Hino-Fukuyo N, Kikuchi A, Yokoyama H, Iinuma K, Hirose M, Haginoya K, Niihori T, Nakayama K, Aoki Y, Kure S.

Seizure. 2017 Aug;50:144-146. doi: 10.1016/j.seizure.2017.06.018. Epub 2017 Jun 20.

17.

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N.

Am J Med Genet A. 2017 Sep;173(9):2346-2352. doi: 10.1002/ajmg.a.38337. Epub 2017 Jun 26.

PMID:
28650561
18.

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

Tanigawa J, Mimatsu H, Mizuno S, Okamoto N, Fukushi D, Tominaga K, Kidokoro H, Muramatsu Y, Nishi E, Nakamura S, Motooka D, Nomura N, Hayasaka K, Niihori T, Aoki Y, Nabatame S, Hayakawa M, Natsume J, Ozono K, Kinoshita T, Wakamatsu N, Murakami Y.

Hum Mutat. 2017 Jul;38(7):805-815. doi: 10.1002/humu.23219. Epub 2017 Apr 20.

PMID:
28337824
19.

Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.

Tode N, Kikuchi T, Sakakibara T, Hirano T, Inoue A, Ohkouchi S, Tamada T, Okazaki T, Koarai A, Sugiura H, Niihori T, Aoki Y, Nakayama K, Matsumoto K, Matsubara Y, Yamamoto M, Watanabe A, Nukiwa T, Ichinose M.

Cancer Sci. 2017 Jun;108(6):1263-1270. doi: 10.1111/cas.13233. Epub 2017 May 11.

20.

Patient with a novel purine-rich element binding protein A mutation.

Okamoto N, Nakao H, Niihori T, Aoki Y.

Congenit Anom (Kyoto). 2017 Nov;57(6):201-204. doi: 10.1111/cga.12214. Epub 2017 Mar 24.

PMID:
28164378
21.

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.

Nishiyama A, Niihori T, Warita H, Izumi R, Akiyama T, Kato M, Suzuki N, Aoki Y, Aoki M.

Neurobiol Aging. 2017 May;53:194.e1-194.e8. doi: 10.1016/j.neurobiolaging.2017.01.004. Epub 2017 Jan 10.

PMID:
28160950
22.

Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation.

Hino-Fukuyo N, Kikuchi A, Iwasaki M, Sato Y, Kubota Y, Kobayashi T, Nakayama T, Haginoya K, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Funayama R, Nakayama K, Aoki Y, Kure S.

Brain Dev. 2017 Apr;39(4):337-340. doi: 10.1016/j.braindev.2016.11.006.

PMID:
27916450
23.

Prominent sensory involvement in a case of familial amyotrophic lateral sclerosis carrying the L8V SOD1 mutation.

Nishiyama A, Warita H, Takahashi T, Suzuki N, Nishiyama S, Tano O, Akiyama T, Watanabe Y, Takahashi K, Kuroda H, Kato M, Tateyama M, Niihori T, Aoki Y, Aoki M.

Clin Neurol Neurosurg. 2016 Nov;150:194-196. doi: 10.1016/j.clineuro.2016.08.008. Epub 2016 Aug 6. No abstract available.

PMID:
27543311
24.

Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan.

Masamune A, Nakano E, Niihori T, Hamada S, Nagasaki M, Aoki Y, Shimosegawa T.

Pancreatology. 2016 Sep-Oct;16(5):814-8. doi: 10.1016/j.pan.2016.06.662. Epub 2016 Jul 2.

PMID:
27397733
25.

Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.

Izumi R, Niihori T, Takahashi T, Suzuki N, Tateyama M, Watanabe C, Sugie K, Nakanishi H, Sobue G, Kato M, Warita H, Aoki Y, Aoki M.

Neurol Genet. 2015 Dec 10;1(4):e36. doi: 10.1212/NXG.0000000000000036. eCollection 2015 Dec.

26.

Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation.

Izumi R, Warita H, Niihori T, Takahashi T, Tateyama M, Suzuki N, Nishiyama A, Shirota M, Funayama R, Nakayama K, Mitsuhashi S, Nishino I, Aoki Y, Aoki M.

Neurol Genet. 2015 Sep 24;1(3):e23. doi: 10.1212/NXG.0000000000000023. eCollection 2015 Oct.

27.

Metachondromatosis without Enchondromas: A Case Report and Review of the Literature.

Kanaya K, Ishikawa A, Yaoita M, Niihori T, Aoki Y, Iba K, Yamashita T.

JBJS Case Connect. 2016 Apr-Jun;6(2):e30. doi: 10.2106/JBJS.CC.15.00182.

PMID:
29252664
28.

Human genetic variation database, a reference database of genetic variations in the Japanese population.

Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F.

J Hum Genet. 2016 Jun;61(6):547-53. doi: 10.1038/jhg.2016.12. Epub 2016 Feb 25.

29.

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y.

Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29.

PMID:
26714497
30.

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.

Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y.

Am J Hum Genet. 2015 Dec 3;97(6):848-54. doi: 10.1016/j.ajhg.2015.10.010. Epub 2015 Nov 12.

31.

Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.

Moriya M, Inoue S, Miyagawa-Tomita S, Nakashima Y, Oba D, Niihori T, Hashi M, Ohnishi H, Kure S, Matsubara Y, Aoki Y.

Hum Mol Genet. 2015 Dec 20;24(25):7349-60. doi: 10.1093/hmg/ddv435. Epub 2015 Oct 15.

PMID:
26472072
32.

Recent advances in RASopathies.

Aoki Y, Niihori T, Inoue S, Matsubara Y.

J Hum Genet. 2016 Jan;61(1):33-9. doi: 10.1038/jhg.2015.114. Epub 2015 Oct 8. Review.

PMID:
26446362
33.

Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities.

Watanabe Y, Shido K, Niihori T, Niizuma H, Katata Y, Iizuka C, Oba D, Moriya K, Saito-Nanjo Y, Onuma M, Rikiishi T, Sasahara Y, Watanabe M, Aiba S, Saito R, Sonoda Y, Tominaga T, Aoki Y, Kure S.

Am J Med Genet A. 2016 Jan;170A(1):189-94. doi: 10.1002/ajmg.a.37376. Epub 2015 Sep 11.

PMID:
26360803
34.

Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.

Nakano E, Geisz A, Masamune A, Niihori T, Hamada S, Kume K, Kakuta Y, Aoki Y, Matsubara Y, Ebert K, Ludwig M, Braun M, Groneberg DA, Shimosegawa T, Sahin-Tóth M, Witt H.

Am J Physiol Gastrointest Liver Physiol. 2015 Oct 15;309(8):G688-94. doi: 10.1152/ajpgi.00241.2015. Epub 2015 Aug 27.

35.

A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.

Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, Aida N, Okamoto N, Niihori T, Aoki Y, Kurosawa K.

Am J Med Genet A. 2015 Sep;167A(9):2223-5. doi: 10.1002/ajmg.a.37135. Epub 2015 Apr 25. No abstract available.

PMID:
25914220
36.

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Sato Y, Nakayama T, Kakisaka Y, Kubota Y, Kobayashi T, Funayama R, Nakayama K, Uematsu M, Aoki Y, Haginoya K, Kure S.

Hum Genet. 2015 Jun;134(6):649-58. doi: 10.1007/s00439-015-1553-6. Epub 2015 Apr 16.

PMID:
25877686
37.

Mutations in PIGL in a patient with Mabry syndrome.

Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y.

Am J Med Genet A. 2015 Apr;167A(4):777-85. doi: 10.1002/ajmg.a.36987. Epub 2015 Feb 23.

PMID:
25706356
38.

Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.

Nakano E, Masamune A, Niihori T, Kume K, Hamada S, Aoki Y, Matsubara Y, Shimosegawa T.

Dig Dis Sci. 2015 May;60(5):1297-307. doi: 10.1007/s10620-014-3476-9. Epub 2014 Dec 10.

PMID:
25492507
39.

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

Nishi E, Mizuno S, Nanjo Y, Niihori T, Fukushima Y, Matsubara Y, Aoki Y, Kosho T.

Am J Med Genet A. 2015 Feb;167A(2):407-11. doi: 10.1002/ajmg.a.36842. Epub 2014 Nov 25.

PMID:
25423878
40.

GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.

Izumi R, Niihori T, Suzuki N, Sasahara Y, Rikiishi T, Nishiyama A, Nishiyama S, Endo K, Kato M, Warita H, Konno H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Nakayama K, Kure S, Matsubara Y, Aoki Y, Aoki M.

Neuromuscul Disord. 2014 Dec;24(12):1068-72. doi: 10.1016/j.nmd.2014.07.008. Epub 2014 Aug 8.

PMID:
25257349
41.

New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.

Inoue S, Moriya M, Watanabe Y, Miyagawa-Tomita S, Niihori T, Oba D, Ono M, Kure S, Ogura T, Matsubara Y, Aoki Y.

Hum Mol Genet. 2014 Dec 15;23(24):6553-66. doi: 10.1093/hmg/ddu376. Epub 2014 Jul 17.

PMID:
25035421
42.

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashima S, Kato F, Fukami M, Aoki Y, Matsubara Y.

PLoS One. 2014 Mar 17;9(3):e91598. doi: 10.1371/journal.pone.0091598. eCollection 2014.

43.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y.

Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20.

44.

Sequential analysis of amino acid substitutions with hepatitis B virus in association with nucleoside/nucleotide analog treatment detected by deep sequencing.

Ninomiya M, Kondo Y, Niihori T, Nagashima T, Kogure T, Kakazu E, Kimura O, Aoki Y, Matsubara Y, Shimosegawa T.

Hepatol Res. 2014 Jun;44(6):678-84. doi: 10.1111/hepr.12168. Epub 2013 Jun 25.

PMID:
23701433
45.

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y.

J Hum Genet. 2013 May;58(5):259-66. doi: 10.1038/jhg.2013.9. Epub 2013 Feb 28.

PMID:
23446887
46.

A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy.

Wakusawa K, Kobayashi S, Abe Y, Tanaka S, Endo W, Inui T, Iwaki M, Watanabe S, Togashi N, Nara T, Niihori T, Aoki Y, Haginoya K.

Brain Dev. 2014 Jan;36(1):61-3. doi: 10.1016/j.braindev.2012.12.007. Epub 2013 Jan 20.

PMID:
23340054
47.

Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia.

Saito Y, Aoki Y, Muramatsu H, Makishima H, Maciejewski JP, Imaizumi M, Rikiishi T, Sasahara Y, Kure S, Niihori T, Tsuchiya S, Kojima S, Matsubara Y.

Leuk Res. 2012 Aug;36(8):1009-15. doi: 10.1016/j.leukres.2012.04.018. Epub 2012 May 14.

48.

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.

Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan.

Am J Med Genet A. 2012 May;158A(5):1083-94. doi: 10.1002/ajmg.a.35292. Epub 2012 Apr 11.

PMID:
22495831
49.

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ, Greene ND, Tominaga T, Matsubara Y, Kure S.

Hum Mol Genet. 2012 Apr 1;21(7):1496-503. doi: 10.1093/hmg/ddr585. Epub 2011 Dec 13.

50.

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

Niihori T, Aoki Y, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Kawame H, Inazawa J, Ohura T, Arai H, Nabatame S, Kikuchi K, Kuroki Y, Miura M, Tanaka T, Ohtake A, Omori I, Ihara K, Mabe H, Watanabe K, Niijima S, Okano E, Numabe H, Matsubara Y.

J Hum Genet. 2011 Oct;56(10):707-15. doi: 10.1038/jhg.2011.85. Epub 2011 Aug 18.

PMID:
21850009

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