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write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
(biology) the taxonomic group whose characteristics are used to define the next higher taxon
a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
all of the tokens of the same symbol; "the word `element contains five different types of character"
printed characters; "small type is hard to read"
identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
the 9th letter of the Roman alphabet (同)i
writing done with a typewriter (同)typewriting

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〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
『私は』私が
iodineの化学記号

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/28 01:49:07」(JST)

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Postmortem anteroposterior (A) and lateral (B) whole-body radiographs of the baby.

Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of their serious health problems, infants with achondrogenesis are usually born prematurely, are stillborn, or die shortly after birth from respiratory failure. Some infants, however, have lived for a while with intensive medical support.

Researchers have described at least three forms of achondrogenesis, designated as Achondrogenesis type 1A, achondrogenesis type 1B and achondrogenesis type 2. These types are distinguished by their signs and symptoms, inheritance pattern, and genetic cause. Other types of achondrogenesis may exist, but they have not been characterized or their cause is unknown.

Achondrogenesis type 1A is caused by a defect in the microtubules of the Golgi apparatus. In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in defects similar to the human disease. When their DNA was sequenced, human patients with achondrogenesis type 1A also had loss-of-function mutations in GMAP-210. GMAP-210 moves proteins from the endoplasmic reticulum to the Golgi apparatus. Because of the defect, GMAP-210 is not able to move the proteins, and they remain in the endoplasmic reticulum, which swells up. The loss of Golgi apparatus function affects some cells, such as those responsible for forming bone and cartilage, more than others.^[1]

Achondrogenesis type 1B is caused by a similar mutation in SLC26A2, which encodes a sulfate transporter.

References

^ Lethal skeletal dysplasia in mice and humans lacking the GolginGMAP-210, Patrick Smits et al., N Engl J Med, 362:206, Jan. 21, 2010

This article incorporates public domain text from The U.S. National Library of Medicine

UpToDate Contents

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1. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
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3. 非免疫性胎児水腫 nonimmune hydrops fetalis
4. 胎児死および死産：発生率、病因、および予防 fetal demise and stillbirth incidence etiology and prevention
5. 神経線維腫症I型（NF1）：病因、臨床的特徴、および診断 neurofibromatosis type 1 nf1 pathogenesis clinical features and diagnosis

English Journal

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Barat-Houari M1,2, Sarrabay G1,2, Gatinois V1,3, Fabre A1, Dumont B1, Genevieve D2,3,4, Touitou I1,2,3.
Human mutation.Hum Mutat.2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21.
Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant conditions characterized by skeletal dysplasia, short stature, and sensorial defects. An early diagnosis is critical to providing relevant patient care and follow-up, and genetic counseling to affected families. There are no re
PMID 26443184

Stickler syndrome associated with epilepsy: report of three cases.

Savasta S1, Salpietro V, Spartà MV, Foiadelli T, Laino D, Lobefalo L, Marseglia GL, Verrotti A.
European journal of pediatrics.Eur J Pediatr.2015 May;174(5):697-701. doi: 10.1007/s00431-015-2514-8. Epub 2015 Mar 27.
Stickler syndrome is a genetically heterogeneous collagenopathy characterized by auditory, ocular, musculoskeletal, and orofacial abnormalities. Stickler syndrome type 1 typically presents ophthalmologic involvement and is due to heterozygous defects of the COL2A1 gene, that have been also identifie
PMID 25809783

Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.

Heinrich T1, Nanda I, Rehn M, Zollner U, Ernestus K, Wirth C, Schlüter G, Schmid M, Kunstmann E.
Cytogenetic and genome research.Cytogenet Genome Res.2015;145(1):25-8. doi: 10.1159/000381169. Epub 2015 Mar 25.
Achondrogenesis type II is an autosomal-dominant disease leading to severe micromelic dwarfism. Here, we report on the postmortem identification of a de novo heterozygous mutation in the COL2A1 gene (c.1529G>A, p.Gly510Asp) in a fetus who presented with generalized hydrops fetalis and severe micr
PMID 25823796

Japanese Journal

Achondrogenesis type II, abnormalities of extracellular matrix

HORTON W. A.
Pediatric Res 22, 324-329, 1987
NAID 30027168153

Achondrogenesis type IIの1例

鈴木勝美,鶴田登代志,今原敏博,佐藤誠,杉山勉
先天異常 : 日本先天異常学会会報 : official journal of Congeital Anomalies Research Association of Japan 21(3), 337, 1981-09-30
NAID 110002727768

Achondrogenesis Type II, Langer-Saldino の一例

友兼尚之,貝原信紘,江口正雄,柴田堅一郎,中野仁雄
整形外科と災害外科 29(3), 453-455, 1980
The case described in this report was born with premature labor of 31 weeks and 2 days, and died 20 minites later. Autopsy showed a 26.2cm long, 1680gr premature boy with short arms and legs, and prom …
NAID 130001636601

「軟骨無発生症II型」

Achondrogenesis
	The appearance of the female baby with achondrogenesis type I after birth. Baby weighed 1810 grams and measured 31 centimeters; died within the first thirty minutes of birth.
Classification and external resources
Specialty	medical genetics
ICD-10	Q77.0
OMIM	600972 200610 200600
DiseasesDB	33350 32635 33398
MedlinePlus	001247