WordNet

that which is inherited; a title or property or estate that passes by law to the heir on the death of the owner (同)heritage
(genetics) attributes acquired via biological heredity from the parents (同)hereditary pattern
any attribute or immaterial possession that is inherited from ancestors; "my only inheritance was my mothers blessing"; "the worlds heritage of knowledge" (同)heritage
hereditary succession to a title or an office or property (同)heritage
of or relating to an autosome; "autosomal gene"

PrepTutorEJDIC

〈U〉『相続』,継承 / 〈C〉『遺産』,相続財産 / 〈C〉(両親・前任者・前代などから)受け継いだもの

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1. メンデル遺伝の概要 overview of mendelian inheritance
2. カルシウム感知性受容体障害：家族性低カルシウム尿性高カルシウム血症および常染色体優性低カルシウム血症 disorders of the calcium sensing receptor familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia
3. 成人における小脳性運動失調の概要 overview of cerebellar ataxia in adults
4. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies
5. 遺伝性運動失調の概要 overview of the hereditary ataxias

English Journal

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ.AbstractFocal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected siblings. Assuming autosomal recessive inheritance, two novel sequence variants were identified in both siblings in CYP26C1-a duplication of seven base pairs, which was maternally inherited, c.844_851dupCCATGCA, predicting p.Glu284fsX128 and a missense mutation, c.1433G>A, predicting p.Arg478His, that was paternally inherited. The duplication predicted a frameshift mutation that led to a premature stop codon and premature chain termination, whereas the missense mutation was not functional based on its in vitro expression in mammalian cells. The FFDD skin lesions arise along the sites of fusion of the maxillary and mandibular prominences early in facial development, and Cyp26c1 was expressed exactly along the fusion line for these facial prominences in the first branchial arch in mice. Sequencing of four additional, unrelated Type IV FFDD patients and eight Type II or III TWIST2-negative FFDD patients revealed that three of the Type IV patients were homozygous for the duplication, whereas none of the Type II or III patients had CYP26C1 mutations. The seven base pairs duplication was present in 0.3% of healthy controls and 0.3% of patients with other birth defects. These findings suggest that the phenotypic manifestations of FFDD Type IV can be non-penetrant or underascertained. Thus, FFDD Type IV results from the loss of function mutations in CYP26C1.
Human molecular genetics.Hum Mol Genet.2013 Feb 15;22(4):696-703. doi: 10.1093/hmg/dds477. Epub 2012 Nov 16.
Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family
PMID 23161670

[Etiology and pathophysiology of benign prostate hyperplasia.]

Roosen A, Gratzke C, Herrlemann A, Magistro G, Strittmatter F, Weinhold P, Tritschler S, Stief CG.SourceUrologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Klinikum Großhadern, Marchioninistraße 15, 81377, München, Deutschland, Alexander.Roosen@med.uni-muenchen.de.
Der Urologe. Ausg. A.Urologe A.2013 Feb 2. [Epub ahead of print]
The pathogenesis of benign prostate hyperplasia (BPH) is still unclear. It is a common disease affecting exclusively humans in its full clinical appearance. There is a broad variety of possible underlying mechanisms which most likely interact in the pathogenesis of the disease: inflammatory processe
PMID 23370401

Japanese Journal

〈Review〉Pathophysiology of Nephronophthisis

Sugimoto Keisuke
ACTA MEDICA KINDAI UNIVERSITY = The Kindai University Medical Association 44(1), 1-8, 2019-06
… [Abstract]Nephronophthisis (NPHP) is chronic tubulointerstitial nephritis with autosomal recessive inheritance and is one of the most common genetic disorders causing end-stage renal disease in children and adolescents. …
NAID 120006708828

A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6

Goda Takeshi,Komatsu Hiroshi,Nozu Kandai,Nakajima Hisakazu
Human Genome Variation (6), 13, 2019-03-06
… Hypomagnesemia 1 (HOMG1) is an extremely rare disease with autosomal recessive inheritance that is caused by mutations in the transient receptor potential melastatin 6 gene (TRPM6). …
NAID 120006644104

Features of Autosomal Recessive Alport Syndrome: A Systematic Review

Lee Jiwon M.,Nozu Kandai,Choi Dae Eun,Kang Hee Gyung,Ha II-Soo,Cheong Hae II
Journal of Clinical Medicine 8(2), 178, 2019-02-03
… Although X-linked (XLAS) inheritance is the most common form, cases with autosomal recessive inheritance with mutations in COL4A3 or COL4A4 are being increasingly recognized. … A systematic review was conducted on autosomal recessive Alport syndrome (ARAS). …
NAID 120006599124