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1. 原発性骨髄線維症における病態 pathogenetic mechanisms in primary myelofibrosis

English Journal

Genetic Regulation of Neuronal Progranulin Reveals a Critical Role for the Autophagy-Lysosome Pathway.

Elia LP, Mason AR, Alijagic A, Finkbeiner S.
The Journal of neuroscience : the official journal of the Society for Neuroscience. 2019 Apr;39(17)3332-3344.
Deficient progranulin levels cause dose-dependent neurological syndromes: haploinsufficiency leads to frontotemporal lobar degeneration (FTLD) and nullizygosity produces adult-onset neuronal ceroid lipofuscinosis. Mechanisms controlling progranulin levels are largely unknown. To better understand pr
PMID 30696728

The germline JAK2 GGCC (46/1) haplotype and survival among 414 molecularly-annotated patients with primary myelofibrosis.

Tefferi A, Lasho TL, Mudireddy M, Finke CM, Hanson CA, Ketterling RP, Gangat N, Pardanani A.
American journal of hematology. 2019 Mar;94(3)299-305.
JAK2 mutations in myeloproliferative neoplasms (MPNs) are associated with the germline GGCC (46/1) haplotype. In 2010, we reported an association between shortened survival in primary myelofibrosis (PMF) and nullizygosity for the JAK2 46/1 haplotype. In the current study, we have increased the numbe
PMID 30516848

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel CT, Reis A, Popp B.
American journal of medical genetics. Part A. 2019 01;179(1)50-56.
Biallelic variants in the AEBP1 gene cause a novel autosomal-recessive connective tissue disorder (CTD) reminiscent of Ehlers-Danlos Syndrome (EDS). The four previously reported individuals show considerable clinical variability. Unbiased high-throughput sequencing enables the rapid identification o
PMID 30548383

Japanese Journal

30 SHOX NULLIZYGOSITY AND HAPLOINSUFFICIENCY IN A JAPANESE FAMILY : IMPLICATION FOR THE DEVELOPMENT OF TURNER SKELETAL FEATURES.

K Muroya,Y Tanaka,T Hasegawa,G Sasaki,T Ogata,Tokyo Dental College Ichikawa General Hospital,Tokyo Dental College Ichikawa General Hospital,Keio University,Tokyo Electric Power Company Hospital,Tokyo Electric Power Company Hospital
Clinical pediatric endocrinology = Clinical pediatric endocrinology 11(2), 108, 2002-12
NAID 110002984462

SHOX nullizygosity and haploinsufficiency in a Japanese family : implication for the development of Turner skeletal features

OGATA T
J Clin Endocrinol Metab 87, 1390-1394, 2002
NAID 10011211034

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