- 同
- familial partial lipodystrophy
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/30 08:45:03」(JST)
[Wiki en表示]
| Dunnigan familial partial lipodystrophy |
| Classification and external resources |
| OMIM |
151660 |
Dunnigan-type familial partial lipodystrophy, abbreviated as (FPLD), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region. FPLD recapitulates the main metabolic attributes of the insulin resistance syndrome, including central obesity, hyperinsulinemia, glucose intolerance and diabetes[1] usually type 2,[2] dyslipidemia, hypertension,[1] and early endpoints of atherosclerosis.[2] It can also result in hepatic steatosis.[3] FPLD results from mutations in LMNA gene, which is the gene that encodes nuclear lamins A and C.[1]
See also
- Familial partial lipodystrophy
References
- ^ a b c Hegele, RA (December 2000). "Familial partial lipodystrophy: A monogenic form of the insulin resistance syndrome". Molecular Genetics and Metabolism 71 (4): 539–44. doi:10.1006/mgme.2000.3092. PMID 11136544.
- ^ a b Hegele, RA (September 2000). "Insulin resistance in human partial lipodystrophy". Current Atherosclerosis Reports 2 (5): 397–404. doi:10.1007/s11883-000-0078-0. PMID 11122771.
- ^ Ludtke, A; Genschel, J; Brabant, G; Bauditz, J et al. (October 2005). "Hepatic steatosis in Dunnigan-type familial partial lipodystrophy". The American Journal of Gastroenterology 100 (10): 2218–24. doi:10.1111/j.1572-0241.2005.00234.x. PMID 16181372.
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Cytoskeletal defects
|
|
| Microfilaments |
| Myofilament |
| Actin |
- Hypertrophic cardiomyopathy 11
- Dilated cardiomyopathy 1AA
- DFNA20
- Nemaline myopathy 3
|
|
| Myosin |
- Elejalde syndrome
- Hypertrophic cardiomyopathy 1, 8, 10
- Usher syndrome 1B
- Freeman–Sheldon syndrome
- DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
- May-Hegglin anomaly
|
|
| Troponin |
- Hypertrophic cardiomyopathy 7, 2
- Nemaline myopathy 4, 5
|
|
| Tropomyosin |
- Hypertrophic cardiomyopathy 3
- Nemaline myopathy 1
|
|
| Titin |
- Hypertrophic cardiomyopathy 9
|
|
|
| Other |
- Fibrillin
- Marfan syndrome
- Weill-Marchesani syndrome
- Filamin
- FG syndrome 2
- Boomerang dysplasia
- Larsen syndrome
- Terminal osseous dysplasia with pigmentary defects
|
|
|
| IF |
| 1/2 |
- Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
- Striate palmoplantar keratoderma 3
- Epidermolytic hyperkeratosis
- IHCM
- KRT2E (Ichthyosis bullosa of Siemens)
- KRT3 (Meesmann juvenile epithelial corneal dystrophy)
- KRT4 (White sponge nevus)
- KRT5 (Epidermolysis bullosa simplex)
- KRT8 (Familial cirrhosis)
- KRT10 (Epidermolytic hyperkeratosis)
- KRT12 (Meesmann juvenile epithelial corneal dystrophy)
- KRT13 (White sponge nevus)
- KRT14 (Epidermolysis bullosa simplex)
- KRT17 (Steatocystoma multiplex)
- KRT18 (Familial cirrhosis)
- KRT81/KRT83/KRT86 (Monilethrix)
- Naegeli–Franceschetti–Jadassohn syndrome
- Reticular pigmented anomaly of the flexures
|
|
| 3 |
- Desmin: Desmin-related myofibrillar myopathy
- Dilated cardiomyopathy 1I
- Peripherin: Amyotrophic lateral sclerosis
|
|
| 4 |
- Neurofilament: Parkinson's disease
- Charcot–Marie–Tooth disease 1F, 2E
- Amyotrophic lateral sclerosis
|
|
| 5 |
- Laminopathy: LMNA
- Mandibuloacral dysplasia
- Dunnigan Familial partial lipodystrophy
- Emery-Dreifuss muscular dystrophy 2
- Limb-girdle muscular dystrophy 1B
- Charcot–Marie–Tooth disease 2B1
- LMNB
- Barraquer–Simons syndrome
- LEMD3
- Buschke–Ollendorff syndrome
- Osteopoikilosis
- LBR
- Pelger-Huet anomaly
- Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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|
|
| Microtubules |
| Kinesin |
- Charcot–Marie–Tooth disease 2A
- Hereditary spastic paraplegia 10
|
|
| Dynein |
- Primary ciliary dyskinesia
- Short rib-polydactyly syndrome 3
- Asphyxiating thoracic dysplasia 3
|
|
| Other |
- Tauopathy
- Cavernous venous malformation
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|
|
| Membrane |
- Spectrin: Spinocerebellar ataxia 5
- Hereditary spherocytosis 2, 3
- Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
- Hereditary spherocytosis 1
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|
| Catenin |
- APC
- Gardner's syndrome
- Familial adenomatous polyposis
- plakoglobin (Naxos syndrome)
- GAN (Giant axonal neuropathy)
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|
| Other |
- desmoplakin: Striate palmoplantar keratoderma 2
- Carvajal syndrome
- Arrhythmogenic right ventricular dysplasia 8
- plectin: Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex of Ogna
- plakophilin: Skin fragility syndrome
- Arrhythmogenic right ventricular dysplasia 9
- centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
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|
|
See also: cytoskeletal proteins
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Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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|
|
UpToDate Contents
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English Journal
- Remote heterodyne millimeter-wave over fiber based OFDM-PON with master-to-slave injected dual-mode colorless FPLD pair.
- Chen HY, Chi YC, Lin GR.
- Optics express.Opt Express.2015 Aug 24;23(17):22691-705. doi: 10.1364/OE.23.022691.
- A remote heterodyne millimeter-wave (MMW) carrier at 47.7 GHz over fiber synthesized with the master-to-slave injected dual-mode colorless FPLD pair is proposed, which enables the future connection between the wired fiber-optic 64-QAM OFDM-PON at 24 Gb/s with the MMW 4-QAM OFDM wireless network at 2
- PMID 26368237
- TO-56-can packaged colorless WRC-FPLD for QAM OFDM transmission at 42 Gbit/s over 25-km SMF.
- Cheng MC, Chi YC, Tsai CT, Lin CY, Lin GR.
- Optics express.Opt Express.2015 Aug 24;23(17):22676-90. doi: 10.1364/OE.23.022676.
- The weak-resonant-cavity Fabry-Perot laser diode (WRC-FPLD) with colorless and channelized mode features is a new-class optical transmitter fulfilling the need of next-generation communications. By packaging the colorless WRC-FPLD transmitter with a 10-GHz transistor-outline-56-can (TO-56-can), the
- PMID 26368236
- Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives.
- Tchang BG1, Shukla AP, Aronne LJ.
- Expert opinion on biological therapy.Expert Opin Biol Ther.2015 Jul;15(7):1061-75. doi: 10.1517/14712598.2015.1052789.
- INTRODUCTION: Metreleptin was recently approved by the Food and Drug Administration for the treatment of generalized lipodystrophy, a condition characterized by leptin deficiency. Its efficacy as hormone replacement therapy suggests broader applications in diseases also characterized by leptin abnor
- PMID 26063386
Japanese Journal
- Non-degenerated Four-Wave Mixing Generated Power Ratio between Co-Propagated Pump Fabry--Perot Modes and Probe Signal in a Non-zero Dispersion Shifted Fiber
- Kung Tsu-Te,Chen Chi-Feng
- Jpn J Appl Phys 50(3), 032503-032503-5, 2011-03-25
- … We theoretically and experimentally study of the four-wave mixing (FWM) that exists between the co-propagated pump Fabry--Perot (FP) modes of a FP laser diode (FPLD) and the single wavelength probe signal in a 25 km of non-zero dispersion shifted fiber (NZDSF) with zero dispersion wavelength of 1495 nm. …
- NAID 150000055373
- LMNA (Lamin A/C), PPARγ遺伝子に変異を認めず感音性難聴, 成長障害を認める Kobberling 型の先天性部分型リポジストロフィーの長期観察例 : チアゾリジン誘導体の効果を中心として
- 佐々木 悠,大久保 久美子,冨永 博之 [他],富田 健一,飯野 研三,田尻 祐司,前川 聡,柏木 厚典,小野 順子,熊谷 秋三,上園 慶子,原 文彦
- 糖尿病 51(9), 849-860, 2008-09-30
- … ジストロフィー(Congenital [familial] partial lipodystrophy)のKöbberling Type or variety: FPLD1)と考えられる現在36歳女性例を報告した．従来の臨床的表現型(phenotype)に加え，GH系に異常のない成長障害，感音性難聴，特異な脂肪分布（腹腔内脂肪のみ蓄積），脂肪肝を認めた．長期間の観察にてチアゾリジン誘導体（TZDs: ピオグリタゾン）はFPLDのインスリン抵抗性を基盤とする糖・脂質代謝異常，脂肪肝の改善に有 …
- NAID 10024364694
- High-Quality ZnO Thin Films Grown by Fast Pulsed Laser Deposition without a Buffer Layer
- Lin Ming-Zheng,Su Chun-Tsung,Yan Hong-Chang,Chern Ming-Yau
- Jpn J Appl Phys 44(31), L995-L997, 2005-07-10
- … For the first time, a fast pulsed laser deposition (FPLD) process is presented for the epitaxial growth of ZnO thin films on $c$-plane sapphire substrates. … The ZnO thin films grown by FPLD show a width of $\sim$10 arcsec in the X-ray $\omega$-scan and distinct Pendellösung fringes in the $\theta$–$2\theta$ scan of the ZnO(0002) reflection. … Compared to conventional (much slower) PLD, 1–20 Hz, the measurements indicate that higher quality ZnO films can be grown by FPLD. …
- NAID 150000013701
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Related Pictures
★リンクテーブル★
[★]
家族性部分型リポジストロフィー、家族性部分的リポジストロフィー
- 同
- FPLD