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bordyfan

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简介
链接http://www.biochemj.org/csb/default.htm
Cell Signalling Biology
This major contribution to the field of cell signalling by one of the world's leading experts, Professor Sir Michael Berridge (Cambridge) is now sponsored by the Biochemical Journal's Signal Knowledge Environment ensuring online access is freely available to all.

Cell Signalling Biology provides researchers, teachers and students alike with an outstanding online resource describing the biology of cell signalling.

New updates covering cytokines and their receptors; virus recognition; transcriptional co-regulators/co-activators/co-repressors; checkpoint signalling; DNA damage; neuron subtypes; hypothalamic regulation; tumour suppressors; tumour metastasis and inflammation and cancer; Alzheimer's disease are now included.
"A fantastic resource for educators and researchers alike, and for anyone interested in the basics and details of cell signalling pathways. The diagrams are particularly useful as teaching tools, I highly recommend this to anyone engaged in signalling research".
Alex Toker, Harvard Medical School, Boston.

View testimonials

Watch a special Biochemical Society Centenary interview with Sir Michael Berridge entitled - Eureka Moments: The key that unlocked calcium in which Professor Sir Michael Berridge talks to Professor Robin Irvine about his 'Eureka Moment' in calcium signalling and his passion for trying to find the solution to interesting problems.
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Contents
  
1 Introduction
The aim of this website is to describe cell signalling within its biological context. There has been an explosion in the characterization of signalling components and pathways. The next major challenge is to understand how cells exploit this large signalling toolkit to assemble the specific signalling pathways they require to communicate with each other.
  Introduction
Overview of cell signalling mechanisms
Communication through electrical signals
Communication through chemical signals
ON mechanisms
Cell stimuli
Cytokines
Receptors
Transducers and amplifiers
Intracellular messengers
Sensors and effectors
OFF mechanisms

Information transfer mechanisms
Conformational-coupling mechanisms
Post-translational modifications
Protein methylation
Sumoylation
Ubiquitination
Ubiquitin signalling system
Protein degradation
DNA methylation
Desensitization of cell signalling
Spatial and temporal aspects of cell signalling
Signalsome

References for Module 1
  

2 Cell signalling pathways
Cells use a large number of clearly defined signalling pathways to regulate their activity. This module focusses on the ON mechanisms responsible for transmitting information into the cell.
  Synopsis
Intracellular signalling pathways
Cyclic AMP signalling pathway
Cyclic AMP formation
Adenylyl cyclase (AC)
Cyclic AMP signalling effectors
Protein kinase A (PKA)
Exchange proteins activated by cyclic AMP (EPACs)
Cyclic AMP signalling functions
Cyclic AMP hydrolysis
Cyclic AMP efflux

GTP-binding proteins
Heterotrimeric G proteins
Monomeric G proteins

Ca2+ signalling
Basic mechanism of Ca2+ signalling
Ca2+ signalling signalsome
Ca2+ signalling modules
Ca2+ ON reactions
Ca2+-induced Ca2+ release (CICR)
Ca2+ OFF reactions
Ca2+ buffers
Ca2+ signalling function
Spatiotemporal aspects of Ca2+ signalling

Cyclic ADP-ribose (cADPR) signalling
cADPR working hypothesis
cADPR generation and metabolism
cADPR control of Ca2+ release
cADPR and cell regulation

Nicotinic acid–adenine dinucleotide phosphate (NAADP) signalling
NAADP generation and metabolism
NAADP control of Ca2+ release

Phosphoinositide signalling
Phosphoinositide metabolism
Inositol lipid metabolism
Inositol phosphate metabolism
Inositol 1,4,5-trisphosphate (InsP3)/Ca2+ signalling cassette
Phospholipase C (PLC)
Diacylglycerol (DAG)/protein kinase C (PKC) signalling cassette
Protein kinase C (PKC)
Phosphoinositide lipid signalling molecules
PtdIns4,5P2 signalling cassette
PtdIns 3-kinase signalling
Insulin receptor
Multipurpose inositol polyphosphate signalling pathway
Nitric oxide (NO)/cyclic GMP signalling pathway
Cyclic GMP signalling pathway
Reactive nitrogen species (RNS) signalling
Redox signalling
Reactive oxygen species (ROS) signalling

Mitogen-activated protein kinase (MAPK) signalling
Overview
Mitogen-activated protein kinase (MAPK) signalling toolkit
Extracellular-signal-regulated kinase (ERK) pathway
c-Jun N-terminal kinase (JNK) pathway
p38 pathway
Mitogen-activated protein kinase (MAPK) signalling properties

Nuclear factor κB (NF-κB) signalling pathway
Nuclear factor κB (NF-κB) signalling toolkit
Tumour necrosis factor α (TNFα) signalling pathway
Toll receptor signalling pathway

Phospholipase D (PLD) signalling pathway
Phospholipase D (PLD) activation
Phosphatidic acid (PA) action
Phosphatidic acid (PA) metabolism

Sphingomyelin signalling pathway
Generation and function of ceramide and sphingosine 1-phosphate (S1P)
Sphingosine 1-phosphate (S1P)
Ceramide

Janus kinase (JAK)/signal transducer and activator of transcription (STAT) signalling pathway
Janus kinase (JAK)/signal transducer and activator of transcription (STAT) structure
Signal transducer and activator of transcription (STAT) activation cascade
Suppressor of cytokine signalling proteins (SOCS)
Janus kinase (JAK)/signal transducer and activator of transcription (STAT) function in growth and development

Smad signalling pathway
Smad signalling toolkit
Domain structure of the Smad family
Smad signalling mechanism
Transforming growth factor β (TGF-β) receptor activation
Smad activation of transcription
Modulation of Smad signalling
Transforming growth factor β (TGF-β) inhibition of cell proliferation

Wnt signalling pathways
Wnts
Canonical Wnt/β-catenin pathway
Wnt/planar cell polarity (PCP) pathway
Wnt/Ca2+ signalling pathway
Casein kinase I (CKI)
Casein kinase II (CK2)

Hedgehog signalling pathway
Hedgehog signalling toolkit
Hedgehog activation of transcription
Hedgehog signalling functions

Notch signalling pathway
Modulation of Notch signalling

Endoplasmic reticulum (ER) stress signalling
Unfolded protein response (UPR)
Endoplasmic reticulum (ER) overload response (EOR)
Activation of apoptosis

Metabolic messengers
AMP signalling pathway
Adenosine monophosphate (AMP)
AMP-activated protein kinase (AMPK)
Adenosine triphosphate (ATP)
Bicarbonate (HCO3−
Fatty acids
NAD signalling pathways
Sterol sensing and cholesterol biosynthesis

References for Module 2
  

3 Ion channels
Ion channels have two main signalling functions: either they can generate second messengers or they can function as effectors by responding to such messengers.
  Synopsis
Ca2+ entry channels
Voltage-operated channels (VOCs)

Voltage-operated channel (VOC) terminology and classification
Voltage-operated channel (VOC) structure
Voltage-operated channel (VOC)-associated subunits
Voltage-operated channel (VOC) properties
Voltage-operated channel (VOC) distribution and function

CaV1 family of L-type channels
CaV1.1 L-type channel
Modulation of the CaV1.1 L-type channel
CaV1.2 L-type channel
CaV2 family of N-type, P/Q-type and R-type channels
CaV3 family of T-type channels

Agonist-operated channels (AOCs)
Receptor-operated channels (ROCs)
Cysteine-loop receptors
Structure and function of nicotinic acetylcholine receptors (nAChRs)
Glutamate receptors
Second messenger-operated channels (SMOCs)
Arachidonic acid-regulated Ca2+ (ARC) channel
Store-operated channels (SOCs)

Transient receptor potential (TRP) ion channel family
Structural organization of the transient receptor potential (TRP) ion channel family
Canonical transient receptor potential (TRPC) family
Vanilloid transient receptor potential (TRPV) family
Melastatin-related transient receptor potential (TRPM) family
Mucolipin transient receptor potential (TRPML) family
TRPML1
TRPA1
Temperature sensing
Polycystins

Mechanotransduction
Mechanosensitive channels
K+ channels
Voltage-dependent K+ (Kv) channels
K+ channel auxiliary subunits
Inward rectifier K+ (Kir) channels
Ca2+-sensitive K+ channels
K+ channel structure
Large-conductance (BK) channel opening
Intermediate-conductance (IK) and small-conductance (SK) channel opening
G protein-gated inwardly rectifying K+ (KG) channels
ATP-sensitive K+ (KATP) channels
Hyperpolarizing-activated cyclic nucleotide-gated (HCN) channels

Chloride channels and transporters
Ca2+-sensitive Cl− channels (CLCAs)
CLC chloride channels and transporters

ATP-binding cassette (ABC) transporters
ABCA1
ABCA2
ABCA3
ABCA4
ABCB4
ABCC1
ABCC4
ABCC7
ABCD1
Cystic fibrosis transmembrane conductance regulator (CFTR)

Cation-chloride cotransporters
Na+-K+-2Cl− cotransporter 1 (NKCC1)
Na+-K+-2Cl− cotransporter 2 (NKCC2)
Na+-Cl− cotransporter (NCC)
K+-Cl− cotransporter 1 (KCC1)
K+-Cl− cotransporter 2 (KCC2)
K+-Cl− cotransporter 3 (KCC3)
K+-Cl− cotransporter 4 (KCC4)

WNK protein kinase
WNK1
WNK2
WNK3
WNK4

Cell volume regulation
Aquaporins
Ca2+ release channels
Ryanodine receptors (RYRs)
Inositol 1,4,5-trisphosphate receptors (InsP3Rs)
Luminal regulation of Ca2+ release channels
Junctophilin (JP)

References for Module 3
  

4 Sensors and effectors
Signalling pathways regulate cellular processes by acting through sensors to stimulate the downstream effectors that are responsible for controlling different cellular processes.
  Synopsis
Sensors
Ca2+ sensors
Calmodulin (CaM)
Troponin C (TnC)
Neuronal Ca2+ sensor (NCS) proteins
Ca2+-binding proteins (CaBPs)
Annexins
S100 proteins
Synaptotagmins

Effectors
Ca2+ effectors
Phosphorylase kinase
Myosin light chain kinase (MLCK)
Calcineurin (CaN)

Exocytosis
Exocytotic mechanisms
Exocytotic/endocytotic cycle
Kiss-and-run vesicle fusion
Exocytosis triggered by Ca2+ entry through voltage-operated channels (VOCs)
Exocytosis triggered by Ca2+ release from internal stores
Exocytotic machinery
Ca2+-dependent exocytosis

Phagocytosis
Phagosome maturation

Gene transcription
Transcription factors
Transcriptional co-regulators
Transcription factor classification
Transcription factor activation mechanisms
Gene silencing
Ubiquitin signalling and gene transcription
Developmentally regulated transcription factors
Nuclear receptors
Hepatocyte nuclear factor 4α (HNF4α)
Internal signal-dependent transcription factors

Cell-surface receptor-dependent transcription factors
Activation of transcription by cytosolic signals
APP intracellular domain (AICD)
β-Catenin as a transcription factor
Interferon-regulatory factors (IFRs)
LBP1 family of transcription factors
Signal transducers and activators of transcription (STATs)
Notch intracellular domain (NICD)
Nuclear factor of activated T cells (NFAT)
Nuclear factor κB (NF-κB)
Single-minded 1(Sim1)
Smads
Activation of transcription by nuclear signals
Activation of transcription factors by regulating their expression

Signalsome stability
Ciliary beating
Primary cilium

Actin remodelling
Wiskott–Aldrich syndrome protein (WASP)
Wiskott–Aldrich syndrome protein (WASP) verprolin homologous (WAVE)
Actin-related protein 2/3 complex (Arp2/3 complex)
Ena/vasodilator-stimulated phosphoprotein (VASP) family

References for Module 4
  

5 Off mechanisms
Signalling pathways are composed of the ON mechanisms that generate internal signals and the OFF mechanisms that remove these signals as cells recover from stimulation.
  Synopsis
Protein phosphatases
Protein tyrosine phosphatases (PTPs)
Protein serine/threonine phosphatases

Phosphodiesterase (PDE)
PDE1
PDE2
PDE3
PDE4
PDE5
PDE6

Ca2+ pumps and exchangers
Pump classification
Properties of Ca2+ pumps
Organization and distribution of Ca2+ pumps

Mitochondria
Generation of ATP
Mitochondrial Ca2+ uptake
Mitochondrial Ca2+ release
Endoplasmic reticulum (ER)/mitochondrial Ca2+ shuttle
Mitochondrial permeability transition pore (MTP)
Mitochondrial modulation of Ca2+ signals
Ca2+ modulation of mitochondrial function
Mitochondrial motility

References for Module 5
  

6 Spatial and temporal aspects of signalling
The function and efficiency of cell signalling pathways are very dependent on their organization both in space and time. With regard to spatial organization, signalling components are highly organized with respect to their cellular location and how they transmit information from one region of the cell to another.
  Synopsis
Spatial organization of signalling pathways
Signal transduction domains
Scaffolding/targeting proteins
Macromolecular signalling complexes

Lipid rafts and caveolae
Lipid composition of rafts and caveolae
Caveolae structure
Signalling function of caveolae

Cadherins
Classical cadherins
Catenins
Desmosomal cadherins
Protocadherins
Atypical cadherins

Cell adhesion complexes
Focal adhesion complex
Focal adhesion actin attachment
Focal adhesion integrin signalling
Podosome

Local and global aspects of signalling
Elementary and global aspects of Ca2+ signalling
Cyclic AMP microdomains
Reactive oxygen species (ROS) microdomains

Temporal aspects of signalling
Cellular oscillators
Brain rhythm
Membrane oscillators
Cytosolic oscillators

References for Module 6
  

7 Cellular processes
Signalling pathways use different messenger systems acting through specific sensors and effectors to control a great variety of cell types
  Synopsis
Mammalian cell types
Metabolic energy network
Control of food intake and body weight

Glial cells
Astrocytes
Astrocyte structure
Spatial buffering of K+ by astrocytes
Neuronal–astrocyte communication
Astrocyte–neuronal communication
Astrocyte excitability
Astrocyte regulation of cerebral blood flow

Satellite glial cells
Microglia

Endothelial cells
Endothelial regulation of paracellular permeability

Skeletal muscle
Skeletal muscle structure
Excitation–contraction (E-C) coupling in skeletal muscle
Excitation–metabolism coupling in skeletal muscle
Insulin control of skeletal muscle glycogen synthesis

Cardiac cells
Sinoatrial node pacemaker cells
Ventricular cells
Atrial cells

Smooth muscle cells
Smooth muscle cell structure
Smooth muscle cell excitation–contraction coupling
Smooth muscle Ca2+ signalling
Smooth muscle Rho/Rho kinase signalling
Smooth muscle cell relaxation
Nitric oxide (NO)/cyclic GMP and smooth muscle relaxation
Smooth muscle cell Ca2+ sparks
Smooth muscle activation mechanisms
Vas deferens
Uterine smooth muscle cells
Detrusor smooth muscle cell
Ureter smooth muscle cell
Airway smooth muscle cells
Vascular smooth muscle cells
Smooth muscle cell cytosolic oscillator
Myogenic vasoconstriction
Corpus cavernosum smooth muscle cells
Gastrointestinal smooth muscle cells
Urethral smooth muscle cells
Interstitial cells of Cajal
Phase wave

Ca2+ homoeostasis
Hormonal regulation of Ca2+ homoeostasis
Ca2+ reabsorption by the intestine

Bone
Bone remodelling
Osteoblasts
Osteocytes
Osteoclasts
Bone cell coupling

Chondrocytes
Skin
Epidermis
Keratinocytes
Dermis
Hair follicle
Arrector pilli muscle
Sebaceous gland
Sweat gland
Melanocytes

Alimentary canal
Stomach
X/A-like cell
Parietal cell
Small intestine
Colon

Kidney
Blood Na+ regulation
Blood pressure
Kidney structure
Juxtaglomerular apparatus (JGA)
Urine formation

Salivary gland
Salivary gland structure
Salivary gland control mechanisms

Exocrine pancreatic acinar cells
Acetylcholine-induced pancreatic secretion
Cholecystokinin (CCK)-induced pancreatic secretion

Liver cells
Regulation of glucose metabolism
Hepatic stellate cell

Adrenal gland
Adrenal cortex
Adrenal medulla

Insulin-secreting β-cells
Islets of Langerhans
Insulin release and biosynthesis

Glucagon-secreting α-cells
Airway epithelial cells
White fat cells
Brown fat cells
Uncoupling proteins

References for Module 7
  

8 Development
Development encompasses the programme of events that begins with fertilization and culminates in complex multicellular organisms like ourselves.
  Synopsis
Maturation
Spermatozoan maturation
Oocyte maturation

Fertilization
Sperm motility and chemotaxis
Acrosome reaction
Sperm-induced oocyte activation
Completion of meiosis at fertilization

Cell specification
Ca2+ in embryonic development
Dorsoventral specification
Left–right asymmetry
Planar cell polarity (PCP)

Differentiation
Proliferation–differentiation switch
Signalsome expression

Stem cells
Embryonic stem cells
Adult stem cells
Stem cell niche

Satellite cells
Skin development
Hair follicle cycle
Skin regeneration and repair
Epidermal stem cells
Melanocyte stem cells
Haematopoietic stem cell (HSC)
HSC anchorage
Intestinal stem cells
Mesenchymal stem cell (MSC)
Differentiation of bone cells
Differentiation of intestinal cells
Differentiation of skeletal muscle
Differentiation of keratinocytes
Differentiation of smooth muscle
Differentiation of neurons
Differentiation of white fat cells
Differentiation of brown fat cells

De-differentiation
References for Module 8
  

9 Cell cycle and proliferation
Cell proliferation is the process whereby cells reproduce themselves by growing and then dividing into two equal copies. Growth factors employ a range of growth factor signalling pathways to activate cells to enter the cell cycle.
  Synopsis
Cell cycle
Cell cycle events
Prophase
Prometaphase
Metaphase
Anaphase
Telophase

Cell cycle toolkit
Cell cycle network
Growth factor signalling/cell cycle interface
Cell cycle signalling
Cyclin D/cyclin-dependent kinase 4 (CDK4) activation
Cyclin B/cyclin-dependent kinase 1 (CDK1) activation
Cyclin D controls G1 progression
Cyclin E controls G1 progression and DNA synthesis
Cyclin A control of DNA synthesis
Cyclin B/cyclin-dependent kinase 1 (CDK1) controls mitosis

Cytokinesis
Assembly and activation of a spindle midzone complex
Assembly of the actomyosin contractile ring
Activation of contraction
Trafficking and insertion of membrane vesicles

Cyclin-dependent kinase (CDK)-activating kinase (CAK)
Polo-like kinases (Plks)
Cyclin-dependent kinase (CDK) inhibitors
Pocket proteins
E2F family of transcription factors
DNA damage and checkpoint signalling
DNA damage
Checkpoint signalling

Cell proliferation.
Information flow during proliferative signalling
Growth factor signalling pathways
K+ channels and cell proliferation

Cell growth control
Tuberous sclerosis complex 1 and 2 (TSC1/2)
Target of rapamycin (TOR)
Proliferation of specific cell types
Lymphocyte activation
T cell chemotaxis
T cell cytoskeletal reorganization
Immunological synapse
T cell receptor (TCR) signalling
Interleukin-2 (IL-2) signalling pathway

References for Module 9
  

10 Neuronal signalling
The central nervous system contains approximately one trillion (1012) neurons that are connected to each other to form neural circuits of bewildering complexity.  
  Synopsis
Neural circuits
Cerebellum
Hippocampus

Neurogenesis
Neuronal morphology
Postsynaptic density (PSD)
Neuronal endoplasmic reticulum
Soma
Synaptic endings
Neuron-within-a-neuron

Synaptic transmission
Neuronal information transfer
Neuronal Ca2+ entry and release channels
Priming the inositol 1,4,5-trisphosphate receptors (InsP3Rs) and ryanodine receptors (RYRs)
Neuronal coincident detection
Input-specific signalling

Presynaptic events
Mossy fibre presynaptic Ca2+ release
Cerebellar basket cell presynaptic Ca2+ release
Hypothalamic neuronal presynaptic Ca2+ release
Neocortical glutamatergic presynaptic Ca2+ release
Miniature excitatory postsynaptic currents (mEPSCs)
Dendritic transmitter release

Postsynaptic events
Postsynaptic changes in membrane potential
Postsynaptic generation of Ca2+ signals

Modulation of neuronal activity
Neuronal excitability
Facilitation

Learning and memory
Memory acquisition
Neuronal coincident detectors
Long-term depression (LTD)
Long-term potentiation (LTP)
Ca2+ and synaptic plasticity
Memory consolidation
Neural plasticity and drug addiction
Medium spiny neurons

Neuronal gene transcription
Direct Ca2+-mediated gene transcription
Indirect Ca2+-mediated gene transcription

Neuronal protein synthesis
Hypothalamic pituitary regulation
Hypothalamus
Posterior pituitary
Anterior pituitary

Sensory systems
Olfaction
Osmoreception
Photoreception
Rod and cone structure
Phototransduction
Cyclic GMP in phototransduction
Hearing
Nociception
Chronic pain
Hyperalgesia
Touch
Hypoxia-sensing mechanisms

References for Module 10
  

11 Cell stress, inflammatory responses and cell death
Cells have intrinsic signalling mechanisms that are capable of sensing various deleterious conditions, both normal and pathological, and respond by mounting a variety of stress responses.
  Synopsis
Inflammatory responses
Inflammatory cytokines

Blood platelets
Mast cells
Mast cell release mechanisms
Mast cell signalling mechanisms

Macrophages
Pathogen-associated molecular patterns (PAMPs)
Modulation of inflammatory responses

Neutrophils
Neutrophil chemotaxis

Senescence
Replicative senescence
Stress-induced senescence

Autophagy
Apoptosis
Apoptotic signalling network
Extrinsic pathway
Intrinsic pathway
Bcl-2 superfamily
BH3-only family
Bcl-2 superfamily control of Ca2+ signalling
Caspase cascade
Hormonal modulation of apoptosis

References for Module 11
  

12 Signalling defects and disease
A large number of diseases are caused by defects in signalling pathways. The nature of these defects and how they are induced varies enormously.  
  Synopsis
Pathogenic organisms and viruses
Bacillary dysentery
Cholera
Listeriosis
Peptic ulcers
Tuberculosis
Chlamydial diseases

Signalsome remodelling and disease
Phenotypic remodelling of the signalsome
Alzheimer's disease
Asthma
Cirrhosis of the liver
Cushing's syndrome
Diabetes
Diabetes insipidus (DI)
Diabetic nephropathy
Diarrhoea
Drug addiction
Ejaculatory dysfunction
Endotoxic shock
End-stage renal disease (ESRD)
Epilepsy
Erectile dysfunction
Heart disease
Humoral hypercalcaemia of malignancy (HHM)
Irritable bowel syndrome
Multiple sclerosis (MS)
Nausea
Primary hyperparathyroidism
Secondary hyperparathyroidism
Hypertension
Manic-depressive illness (bipolar disease)
Obesity
Osteoporosis
Pain
Premature labour
Rheumatoid arthritis
Schizophrenia
Sudden infant death syndrome (SIDS)
Zollinger–Ellison syndrome

Genotypic remodelling of the signalsome
Achromatopsia
Acute periodic paralysis
Albinism
Alport syndrome, mental retardation, midface hyperplasia and elliptocytosis (AMME)
Amyotrophic lateral sclerosis (ALS)
Anderman's disease
Andersen-Tawil syndrome
Angelman syndrome (AS)
Arrhythmogenic ventricular cardiomyopathy type 2 (ARVD2)
Ataxia telangiectasia (AT) syndrome
Autosomal dominant hypocalcaemia (ADH)
Bartter's disease
Bernard–Soulier syndrome
Brody disease
Bruton's type X-linked agammaglobulinaemia
Cancer
Tumour cell microenvironment
Catecholamine polymorphic ventricular tachycardia (CPVT)
Central core disease (CCD)
Charcot-Marie-Tooth disease 2A
Charcot–Marie–Tooth disease 4B
Concurrent generalized epilepsy with paroxysmal dyskinesia
Congenital chloride diarrhoea
Congenital hyperinsulinism of infancy
Congenital insensitivity to pain
Congenital lipoid adrenal hyperplasia
Cowden's disease
Craniofrontonasal syndrome (CFNS)
Cystic fibrosis (CF)
Darier's disease
Dent's disease
Dominant nonsyndromic deafness type 2 (DFNA2)
Down's syndrome
Early-onset obesity
Episodic ataxia type 2
Erythermalgia
Familial advanced sleep phase syndrome (FASPS)
Familial Alzheimer's disease (FAD)
Familial expansile osteolysis
Familial hemiplegic migraine (FHM)
Familial hypocalciuretic hypercalcaemia (FHH)
Familial exudative vitreoretinopathy (FEVR)
Familial focal segmental glomerulosclerosis (FSGS)
Fanconi anaemia
Fragile X syndrome (FXS)
Frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17)
Gitelman's disease
Glanzmann's thrombasthenia
Glycogen storage disease
Gordon's disease
Gorlin's syndrome
Hailey–Hailey disease
Huntington's disease
Huntington's disease-like 2 (HDL2)
Hypogonadotropic hypogonadism
Hypokalaemic periodic paralysis (HPP)
Hypomagnesaemia hypercalciuria syndrome
Hypomagnesaemia with secondary hypocalcaemia
Kindler syndrome
Lambert–Eaton myasthenic syndrome
Leber congenital amaurosis (LCA)
Liddle's disease
Limb girdle muscular dystrophy type 2A
Long QT syndrome
Lowe's oculocerebrorenal (OCRL) syndrome
Malignant hyperthermia (MH)
Microcephaly
Mucolipidosis
Muscular dystrophy
Myotonia congenita
Neonatal severe hyperparathyroidism (NSHPT)
Nephrogenic diabetes insipidus (NDI)
Neurofibromatosis type 1
Neurofibromatosis type 2
Niemann–Pick disease
Osteopetrosis
Osteoporosis pseudoglioma (OPPG)
Peutz–Jeghers syndrome
Piebaldism
Polycystic kidney disease
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
Prader-Willi syndrome (PWS)
Progressive familial intrahepatic cholestasis type III (PFIC3)
Respiratory distress syndrome (RDS)
Retinitis pigmentosa
Rett syndrome
Scott syndrome
Severe combined immune deficiency (SCID)
Severe psychomotor retardation
Sezary's syndrome
Spinocerebellar ataxia type 6 (SCA6)
Spinocerebellar ataxia type 12 (SCA12)
Stargardt disease
Tangier syndrome
Timothy syndrome
TNF-receptor-associated periodic febrile syndrome (TRAPs)
Tuberous sclerosis
Usher syndrome
Van Buchem disease
Waardenburg syndrome
Wiskott–Aldrich syndrome
X-linked adrenoleukodystrophy (X-ALD)
X-linked mental retardation
X-linked recessive myotubular myopathy
X-linked severe combined immune deficiency (X-SCID)

References for Module 12
  

Index
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我所荒废之今日,正是昨日殒身之士渴求的明日。
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sjksgy2536

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小木虫(金币+0.5):给个红包,谢谢回帖
谢谢了·~~刚刚看了一下可以下载的~~~版主没有搞清楚 乱评·~~~
花田里的牛牛~~
2楼2011-11-29 10:25:03
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aksand

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小木虫: 金币+0.5, 给个红包,谢谢回帖
单独一章一章下,谢谢
3楼2012-08-07 10:42:43
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hedongxi

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小木虫: 金币+0.5, 给个红包,谢谢回帖
现在不能下载了是不是
既来之,则安之
4楼2015-10-03 16:03:06
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那只鱼

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小木虫: 金币+0.5, 给个红包,谢谢回帖
您好,这个链接失效了,您能再发一次吗?或者我给您邮箱Vincylien@163.com 万分感谢!
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