WordNet

of or relating to the mind; "mental powers"; "mental development"; "mental hygiene"
affected by a disorder of the mind; "a mental patient"; "mental illness"
involving the mind or an intellectual process; "mental images of happy times"; "mental calculations"; "in a terrible mental state"; "mental suffering"; "free from mental defects"
of or relating to the chin- or liplike structure in insects and certain mollusks
relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
the extent to which something is delayed or held back
lack of normal development of intellectual capacities (同)mental_retardation, backwardness, slowness, subnormality
any of a large group of nitrogenous organic compounds that are essential constituents of living cells; consist of polymers of amino acids; essential in the diet of animals for growth and for repair of tissues; can be obtained from meat and eggs and milk and legumes; "a diet high in protein"

PrepTutorEJDIC

『精神の』,心の / 頭脳の,知能の / 《名詞の前にのみ用いて》精神病の / 《名詞の前にのみ用いて》頭の中で行う / 《英話》《補語にのみ用いて》頭のおかしい,気がふれた
家族の,家族特有の / 違伝的な,血統にあらわれる
〈U〉遅延,遅滞 / 〈C〉遅らせるもの;妨害物 / 〈U〉〈C〉知能(学業など)の遅れ
蛋白(たんばく)質

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1. 副腎不全の稀な原因 unusual causes of adrenal insufficiency
2. 肥大型心筋症の遺伝学 genetics of hypertrophic cardiomyopathy
3. 小児における知的障害（精神遅滞）：定義、診断、およびニーズの評価 intellectual disability mental retardation in children definition diagnosis and assessment of needs
4. 知的障害（精神遅滞）をもつ成人のプライマリケア primary care of the adult with intellectual disability mental retardation
5. 黒色腫（メラノーマ）に対する遺伝的感受性 inherited susceptibility to melanoma

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Boycott KM1, Beaulieu CL2, Kernohan KD2, Gebril OH3, Mhanni A4, Chudley AE4, Redl D5, Qin W2, Hampson S2, Küry S6, Tetreault M7, Puffenberger EG8, Scott JN9, Bezieau S6, Reis A10, Uebe S10, Schumacher J11, Hegele RA12, McLeod DR5, Gálvez-Peralta M13, Majewski J7, Ramaekers VT14; Care4Rare Canada Consortium, Nebert DW15, Innes AM5, Parboosingh JS5, Abou Jamra R16.
American journal of human genetics.Am J Hum Genet.2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002.
Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors; various human studies and animal models have demonstrated the importance of Mn and Zn for development. Here we describe an autosomal-recessive disorder in six individuals from the Hutterite community and
PMID 26637978

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Isrie M1, Breuss M2, Tian G3, Hansen AH2, Cristofoli F4, Morandell J2, Kupchinsky ZA5, Sifrim A6, Rodriguez-Rodriguez CM7, Dapena EP7, Doonanco K8, Leonard N8, Tinsa F9, Moortgat S10, Ulucan H11, Koparir E12, Karaca E13, Katsanis N5, Marton V14, Vermeesch JR15, Davis EE5, Cowan NJ3, Keays DA2, Van Esch H16.
American journal of human genetics.Am J Hum Genet.2015 Dec 3;97(6):790-800. doi: 10.1016/j.ajhg.2015.10.014.
Circumferential skin creases Kunze type (CSC-KT) is a specific congenital entity with an unknown genetic cause. The disease phenotype comprises characteristic circumferential skin creases accompanied by intellectual disability, a cleft palate, short stature, and dysmorphic features. Here, we report
PMID 26637975

Ebrahimi-Fakhari D1, Saffari A2, Westenberger A3, Klein C4.
Brain : a journal of neurology.Brain.2015 Dec;138(Pt 12):3476-95. doi: 10.1093/brain/awv317. Epub 2015 Nov 23.
Next-generation sequencing has identified mutations in the PRRT2 (proline-rich transmembrane protein 2) gene as the leading cause for a wide and yet evolving spectrum of paroxysmal diseases. PRRT2 mutations are found in the majority of patients with benign familial infantile epilepsy, infantile conv
PMID 26598493

Novel Etiological and Therapeutic Strategies for Neurodiseases: RNA Editing Enzyme Abnormality in Sporadic Amyotrophic Lateral Sclerosis

Hideyama Takuto,Yamashita Takenari,Nishimoto Yoshinori [他],Suzuki Takeshi,Kwak Shin
Journal of Pharmacological Sciences 113(1), 9-13, 2010
… The motor neurons of patients with sporadic amyotrophic lateral sclerosis (ALS) express abundant Q/R site–unedited GluR2 mRNA, whereas those of patients with other motor neuron diseases including familial ALS associated with mutated SOD1 (ALS1) and those of normal subjects express only Q/R site–edited GluR2 mRNA. …
NAID 130000253396

細山田隆,Hosoyamada Takashi,ホソヤマダタカシ
福岡医学雑誌 97(11), 322-350[含英語文要旨], 2006-11-25
… The cases studied, included　one patient with cystic fibrosis, two with lactose intolerance with lactosuria(Durand type), one with primary intestinal lymphangiectasia, two with familial hypobetalipoproteinemia, one with Hartnup disease, one with congenital chroride diarrhea, one with acrodermatitis enteropathica, one with intestinal nodular lymphoid hyperplasia(NLH), five with intractable diarrhea of early infancy and four with glycogenosis type Ia. …
NAID 120002646780