Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP135407.RAcfw4T9bzaHTzAJgtQ2ydiioE2X5lwR_uGZuqI7a-dek130_assertion description "[Our results support SYNGR1 as a probable susceptibility gene for schizophrenia and bipolar disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135407.RAcfw4T9bzaHTzAJgtQ2ydiioE2X5lwR_uGZuqI7a-dek130_provenance.
- NP135413.RAXdgVC8Jd8adJHIlcFVMCMcaAR56f5o_pfowMOfutMRg130_assertion description "[Elevated levels of PCNT2 might be implicated in the pathophysiology of bipolar disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135413.RAXdgVC8Jd8adJHIlcFVMCMcaAR56f5o_pfowMOfutMRg130_provenance.
- NP135419.RAfF8Gy2UImScaN1S1ZpLiyOCp4vOPRaN8pCYUEq2avB4130_assertion description "[These results suggest that all components, i.e.the store-operated calcium channel (SOCC), endoplasmic reticulum, and mitochondria, somehow contribute to the altered Ca2+ signalling in bipolar disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135419.RAfF8Gy2UImScaN1S1ZpLiyOCp4vOPRaN8pCYUEq2avB4130_provenance.
- NP135430.RAeOQr6BHZ5RddFHTn1eMv29aSmQEIf-JyNG3jtZJWdS4130_assertion description "[A polymorphic copy number variation in this locus, a 16.7-kb deletion affecting PCDH-alpha exons 8-10 (alpha 8-alpha 10 Delta), was analyzed in this study as a potential candidate variant in schizophrenia and bipolar disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135430.RAeOQr6BHZ5RddFHTn1eMv29aSmQEIf-JyNG3jtZJWdS4130_provenance.
- NP135433.RAbwIeve1W8MMJpRFcqBp0oDweET0OfS2GVufSSwnA5g4130_assertion description "[Contribution of common variations of ATF4 and ATF5 to the pathophysiology of bipolar disorder may be minimal if any.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135433.RAbwIeve1W8MMJpRFcqBp0oDweET0OfS2GVufSSwnA5g4130_provenance.
- NP135434.RAcFUUyQGDs4Wrrg3JbG8DEQF3W8eqAW0HT-L-7Hg_lGk130_assertion description "[Expression analysis confirmed that VMAT1 is expressed in human brain at the mRNA and protein level/suggest that variations in the VMAT1 gene may confer susceptibility to Bipolar Disorder in patients of European descent.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135434.RAcFUUyQGDs4Wrrg3JbG8DEQF3W8eqAW0HT-L-7Hg_lGk130_provenance.
- NP135439.RAamMRaqj4canizgl9eO6MrFXWdJ8qObQFbf7ZmOzsjXI130_assertion description "[The aim of this study was to investigate the association between PDLIM5 single nucleotide polymorphisms and bipolar disorder in a case-control sample.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135439.RAamMRaqj4canizgl9eO6MrFXWdJ8qObQFbf7ZmOzsjXI130_provenance.
- NP135446.RASG9Z7RQSTeyeWoe-dRD7knwO7SNz_9p9aL54IhXjpyQ130_assertion description "[The COMT Val allele was associated with greater positive symptomatology in schizophrenia, whereas Met homozygosity was associated with greater positive symptomatology in bipolar disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135446.RASG9Z7RQSTeyeWoe-dRD7knwO7SNz_9p9aL54IhXjpyQ130_provenance.
- NP135448.RAcXIPuhW21PKp_Hm14KlJTFqMUUj19UWk5opJr5IJYcU130_assertion description "[Patients with bipolar disorders and relatives carrying TT and/or AA and AC genotypes of methylenetetrahydrofolate reductase had elevated tHcy and reduced folate and B12 levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135448.RAcXIPuhW21PKp_Hm14KlJTFqMUUj19UWk5opJr5IJYcU130_provenance.
- NP135453.RAfGKjlQe7mWpJQN-H3ZGn0VNdnvq0qhNbN78JSemFYxU130_assertion description "[Single nucleotide polymorphisms are not asociated with bipolar disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135453.RAfGKjlQe7mWpJQN-H3ZGn0VNdnvq0qhNbN78JSemFYxU130_provenance.
- NP135459.RAXBlkqPPUulBpqVLgkX2nLz-Arxprgk50sfeneIVSeok130_assertion description "[The -2 bp polymorphism or a nearby polymorphism of the NACHR alpha7 subunit may play a role in the pathogenesis of Bipolar Disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135459.RAXBlkqPPUulBpqVLgkX2nLz-Arxprgk50sfeneIVSeok130_provenance.
- NP135460.RAcvl0YJH-s8M3oQVbJBn5XYsnquenIFLYgNZ9vJx-104130_assertion description "[study adds support to a role of CAPON in schizophrenia, produces new evidence implicating this gene in the etiology of bipolar disorder, and suggests a possible mechanism of action of CAPON in psychiatric illness ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135460.RAcvl0YJH-s8M3oQVbJBn5XYsnquenIFLYgNZ9vJx-104130_provenance.
- NP135464.RAQlkUe9PSwR5MiaAmHm5jT6tWPwOz3VemsVIwyZvs3Tk130_assertion description "[All four groups showed a very high interindividual variation/( c) -positive glial cells were significantly reduced in the white matter of patients with schizophrenia, bipolar disorder, and major depression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135464.RAQlkUe9PSwR5MiaAmHm5jT6tWPwOz3VemsVIwyZvs3Tk130_provenance.
- NP135465.RATmz5BVqcwpK2LvjnN5oUHoFxHfuVlVk8wjS45rSLI8I130_assertion description "[Decreased mRNA levels of DISC1 expression, associating with the risk haplotype, may be implicated in the pathophysiology of bipolar disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135465.RATmz5BVqcwpK2LvjnN5oUHoFxHfuVlVk8wjS45rSLI8I130_provenance.
- NP135466.RAZKi4yyDZ8MDj3g6PTD93ndHgX61elcKp3YZhSKq_iLQ130_assertion description "[Findings suggest genetic variants of the TRPM2 gene increase risk for BD and support the notion that TRPM2 may be involved in the pathophysiology of bipolar disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135466.RAZKi4yyDZ8MDj3g6PTD93ndHgX61elcKp3YZhSKq_iLQ130_provenance.
- NP135469.RASPqJUmHChs0F9I50K_Mv_qvANsdMcn1Z02oWdoRNeXg130_assertion description "[One region in TRAX showed weaker evidence for sex-specific associations of individual haplotypes with bipolar disorder in men.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135469.RASPqJUmHChs0F9I50K_Mv_qvANsdMcn1Z02oWdoRNeXg130_provenance.
- NP135470.RAf0Pri-OgsXNxPbJK9z5c8yYo_3iRjYUpr_xgmdPY5S0130_assertion description "[GR mRNA expression was reduced in the basolateral/lateral nuclei in schizophrenia and bipolar disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135470.RAf0Pri-OgsXNxPbJK9z5c8yYo_3iRjYUpr_xgmdPY5S0130_provenance.
- NP135472.RAWM3fXlJk27V0BYyHh6sl1aE6PCFsJQ50NGgIaL4wPVw130_assertion description "[a new polymorphism in ALOX12 gene is associated with bipolar disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135472.RAWM3fXlJk27V0BYyHh6sl1aE6PCFsJQ50NGgIaL4wPVw130_provenance.
- NP135473.RAUX8z7LUJNag6NN1gUYCO1mdg5s9zJaqgkSyusQfTOyI130_assertion description "[schizophrenia and bipolar disorder patients, the increase of S-adenosyl methionine is associated with an overexpression of DNA methyltransferase-1 mRNA in Brodmann's area 9 GABAergic neurons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135473.RAUX8z7LUJNag6NN1gUYCO1mdg5s9zJaqgkSyusQfTOyI130_provenance.
- NP135487.RAVuAebcV3GJdqboR0bklrPmLHORe1u36tzzRAaEbMXj0130_assertion description "[No mutation or polymorphism was detected in the coding region of thyroid transcription factor-1 (TTF-1) gene in Chinese children with congenital hypothyroidism ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135487.RAVuAebcV3GJdqboR0bklrPmLHORe1u36tzzRAaEbMXj0130_provenance.
- NP135492.RAfhS1D0_XEIDI3qEmR1i7mSthM2uSB-q0wKjP7ilgE6g130_assertion description "[restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135492.RAfhS1D0_XEIDI3qEmR1i7mSthM2uSB-q0wKjP7ilgE6g130_provenance.
- NP135496.RASbCIeyBUz6qrNCKVsNDX-Ci7T5PLDSE4jscmAfZ0UIY130_assertion description "[The cause of unusually severe dominant hypercholesterolemia is due to the effect of mutant PCKS9 on apolipoprotein B secretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135496.RASbCIeyBUz6qrNCKVsNDX-Ci7T5PLDSE4jscmAfZ0UIY130_provenance.
- NP135497.RAb5hyJzfnVkOLVS58AK7Z9ubm1HjTa99SX2PKqm01Hrc130_assertion description "[identification of the minimal inhibitory sequence of AnxA2 should pave the way toward the development of PCSK9 inhibitory lead molecules for the treatment of hypercholesterolemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135497.RAb5hyJzfnVkOLVS58AK7Z9ubm1HjTa99SX2PKqm01Hrc130_provenance.
- NP135505.RAWVl1DzoaBbzcMda9ROrH4bYFFNfuOREeHmpcHwAvO7M130_assertion description "[two novel mutations were identified in exon 4 of the low-density lipoprotein receptor gene in a Chinese family with clinically diagnosed autosomal genetic hypercholesterolemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135505.RAWVl1DzoaBbzcMda9ROrH4bYFFNfuOREeHmpcHwAvO7M130_provenance.
- NP135506.RAf77t3jySqvvcLFwBdcxQkz1wdwnb4kDrjwhv9Zh7SU0130_assertion description "[results demonstrate that the modular adaptor protein autosomal recessive hypercholesterolemia (ARH) must bind the LDLR tail and either clathrin or AP-2 to promote receptor clustering and internalization of LDL ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135506.RAf77t3jySqvvcLFwBdcxQkz1wdwnb4kDrjwhv9Zh7SU0130_provenance.
- NP135507.RAWNlPvyRfQMZ7SINnJVonIbjndo0w7XrMC5LWY96BMmE130_assertion description "[Point mutations in low density lipoprotein receptor is associated with severe hypercholesterolemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135507.RAWNlPvyRfQMZ7SINnJVonIbjndo0w7XrMC5LWY96BMmE130_provenance.
- NP135510.RAWd6AN2_w8xRGcgELRoKsh7wtFx3h5fA277Ale4K35N8130_assertion description "[The LDL-R synthesis dysfunction of familial hypercholesteremia patients leads to arterial stenosis and calcification, which are the major phenotype of the clinical disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135510.RAWd6AN2_w8xRGcgELRoKsh7wtFx3h5fA277Ale4K35N8130_provenance.
- NP135512.RAZuJXiVZADt9iQmH39ar-KEUXJXnXpEyDKhc3VEgpCiE130_assertion description "[restoration of function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1 ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135512.RAZuJXiVZADt9iQmH39ar-KEUXJXnXpEyDKhc3VEgpCiE130_provenance.
- NP135513.RAaXheQEQzfzOPZ_EnpRX5sH6ISB8yRcNtKdWrzAko5vo130_assertion description "[Results suggest that autosomal recessive hypercholesterolemia (ARH) and beta-arrestin depend on a privileged AP2beta2 appendage site for proper cargo recruitment to clathrin bud sites [AP2beta2].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135513.RAaXheQEQzfzOPZ_EnpRX5sH6ISB8yRcNtKdWrzAko5vo130_provenance.
- NP135515.RAa7QzAr4y_8tYTm-mRZ-7SLOvYtJ9DblsgDJjXsd6EXg130_assertion description "[Dab2 expression is exceptionally low in hepatocytes, likely accounting for the pathological hypercholesterolemia that accompanies ARH loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135515.RAa7QzAr4y_8tYTm-mRZ-7SLOvYtJ9DblsgDJjXsd6EXg130_provenance.
- NP135516.RAaodn2_ouqOm0AnXLRfbA93ppz5jklXyUR9fpCIjUF18130_assertion description "[Coexistence of higher insulin resistance and hypercholesterolemia for carriers of the aspartate-19-histidine polymorphism may result in a greater risk of cardiovascular disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135516.RAaodn2_ouqOm0AnXLRfbA93ppz5jklXyUR9fpCIjUF18130_provenance.
- NP135524.RAcIOJmkB4NDAMWvHEwDKripJ6XsPEEQFBaSFaI1j7U6M130_assertion description "[The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery/ARH patients, defective sorting adaptor function in hepatocytes leads to faulty LDL receptor traffic and hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135524.RAcIOJmkB4NDAMWvHEwDKripJ6XsPEEQFBaSFaI1j7U6M130_provenance.
- NP135525.RAQRXoYO7OaDi4wYsr2JgTzybi_A82xjfLaQZgM0HiXGE130_assertion description "[identification of the minimal inhibitory sequence of AnxA2 should pave the way toward the development of PCSK9 inhibitory lead molecules for the treatment of hypercholesterolemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135525.RAQRXoYO7OaDi4wYsr2JgTzybi_A82xjfLaQZgM0HiXGE130_provenance.
- NP135526.RAYlWdqo8ZoRTxyDc7yH7GPg6og34FOJ9HHHYNlQhmLDA130_assertion description "[Endothelial VWF recruits platelets to atherosclerosis-prone sites in response to hypercholesterolemia/primes platelets for recruitment via VWF, GPIb alpha, and P-selectin before lesions are detectable.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135526.RAYlWdqo8ZoRTxyDc7yH7GPg6og34FOJ9HHHYNlQhmLDA130_provenance.
- NP135527.RAQ2msWnMFcFPkfLMDsrRaZtJMkdI43P91nv-1CZsKKMk130_assertion description "[The present study demonstrated that both SOD1 and the metal-free form of enzyme (Apo SOD1) inhibit HMG-CoA reductase gene expression in HepG2 cells, in normal human fibroblasts, and in fibroblasts of subjects affected by familiar hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135527.RAQ2msWnMFcFPkfLMDsrRaZtJMkdI43P91nv-1CZsKKMk130_provenance.
- NP135530.RATq8_0w4H0DcbQwiTJJsczdXb-wQF2t-spACX8bV7kJY130_assertion description "[The present study demonstrated that both SOD1 and the metal-free form of enzyme (Apo SOD1) inhibit HMG-CoA reductase gene expression in HepG2 cells, in normal human fibroblasts, and in fibroblasts of subjects affected by familiar hypercholesterolemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135530.RATq8_0w4H0DcbQwiTJJsczdXb-wQF2t-spACX8bV7kJY130_provenance.
- NP135537.RAftgbzXglRcBURGmzUIVzt5giUD4Vdk5AlKysxslOp7M130_assertion description "[squalene synthase may be involved in the etiology of hypercholesterolemia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135537.RAftgbzXglRcBURGmzUIVzt5giUD4Vdk5AlKysxslOp7M130_provenance.
- NP135540.RAZ2ZW4XOPSZWvFe1ypy0EoeQaM270mjDI74nPol--Gb8130_assertion description "[Expression of the hApoE transgene was not sufficient to correct hypercholesterolemia/, lesion area at the brachiocephalic artery (BCA) was significantly reduced (-72%) in female hApoE transgenic mice on the LDLR-/- background.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135540.RAZ2ZW4XOPSZWvFe1ypy0EoeQaM270mjDI74nPol--Gb8130_provenance.
- NP135554.RATq_lIXPHBUxM7vhNe0hOjwwY4sfWrO88-JmQH1T4aIc130_assertion description "[The present prospective study indicates that the epsilon4 allele of the Apo E polymorphism is one of the prognostic risk factors involved in the development of diabetic nephropathy with type 2 diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135554.RATq_lIXPHBUxM7vhNe0hOjwwY4sfWrO88-JmQH1T4aIc130_provenance.
- NP135561.RAWVd1NZ03UowOjAvQMmU9m6b-ONi-nF41UBM9SY-EDpU130_assertion description "[Identification and function of mutations in FAD-binding domain of mitochonrial glycerophosphate dehydrogenase in caucasians with type 2 diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135561.RAWVd1NZ03UowOjAvQMmU9m6b-ONi-nF41UBM9SY-EDpU130_provenance.
- NP135564.RAZ8F2EZ2a5gOymWOivDzOJfBxDiopKC7ShXLyM5ZGp8U130_assertion description "[A 4-day physiological increase in plasma free fatty acids to levels seen in obesity and type 2 diabetes mellitus impairs insulin action/insulin signaling in control but does not worsen insulin resistance in family history of type 2 diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135564.RAZ8F2EZ2a5gOymWOivDzOJfBxDiopKC7ShXLyM5ZGp8U130_provenance.
- NP135565.RARCRlwjcyd2mEO3vNKiHoKz31bUZl-P21oQ9wCGNDzMk130_assertion description "[Mutation in an IPF1 binding site of the insulin gene promoter may predispose to type 2 diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135565.RARCRlwjcyd2mEO3vNKiHoKz31bUZl-P21oQ9wCGNDzMk130_provenance.
- NP135570.RAWNCQOtRvJ6zHOc873W1kSweOpfDA4QXR7bFCL1mQr3I130_assertion description "[evaluated the association of the three TCF7L2 polymorphisms with NIDDM by using the program admixmap to fit a logistic regression model incorporating individual ancestry, sex, age, body mass index and education ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135570.RAWNCQOtRvJ6zHOc873W1kSweOpfDA4QXR7bFCL1mQr3I130_provenance.
- NP135571.RAVo931FJBGTGrLh5iHhbf_xklHDtuF8wvhnmfeTARQyk130_assertion description "[TCF7L2 variants could play a role in the pathogenesis of type 2 diabetes mellitus in the Hispanic American population through a mchanism involving insulin secretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135571.RAVo931FJBGTGrLh5iHhbf_xklHDtuF8wvhnmfeTARQyk130_provenance.
- NP135572.RAQJhaceX8cgv1qLu5DIVcKJg-oG1fRHD_AmauY2coTTw130_assertion description "[The rs12255372 (G/T) and rs7903146 (C/T) polymorphisms of TCF7L2 gene confer susceptibility to type 2 diabetes mellitus in Asian Indians.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135572.RAQJhaceX8cgv1qLu5DIVcKJg-oG1fRHD_AmauY2coTTw130_provenance.
- NP135574.RAW5XF_JX7avKsDOyPAOtd4zQJg0zClcFR6WXYl63Y62o130_assertion description "[results confirm that the genetic variations in the HNF-1 beta gene would be a very uncommon cause of progressive nephropathy in patients with type 2 diabetes mellitus ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135574.RAW5XF_JX7avKsDOyPAOtd4zQJg0zClcFR6WXYl63Y62o130_provenance.
- NP135581.RAX2Y5vjkf1UthuvOTHblYI9K3VozrYdD34TKFKXyeffk130_assertion description "[Among Asian Indians, the Ala98Val polymorphism of HNF1alpha gene is associated with MODY and with earlier age at onset of type 2 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135581.RAX2Y5vjkf1UthuvOTHblYI9K3VozrYdD34TKFKXyeffk130_provenance.
- NP135584.RAVubUxVFLj7lIZhgTfYigB9D0rNpzLqDBiSZz6wgkj0E130_assertion description "[A study evaluating the extent to which common variation in the six known maturity-onset diabetes of the young (MODY) genes, which cause a monogenic form of type 2 diabetes, is associated with type 2 diabetes is presented.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135584.RAVubUxVFLj7lIZhgTfYigB9D0rNpzLqDBiSZz6wgkj0E130_provenance.
- NP135585.RAQDlR97VnG-Q5dUTJdEWr7w20c3z0M9x3eb6j3OngSlQ130_assertion description "[mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135585.RAQDlR97VnG-Q5dUTJdEWr7w20c3z0M9x3eb6j3OngSlQ130_provenance.
- NP135586.RAbXtKrq1MIKqkFQI2-4ewhcn76Q-NlrLJbSwwMHT8RGI130_assertion description "[results suggested that mutations in MODY2 and MODY3 genes do not explain the majority of maturity-onset diabetes of the young (MODY) cases in Brazilian population ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135586.RAbXtKrq1MIKqkFQI2-4ewhcn76Q-NlrLJbSwwMHT8RGI130_provenance.
- NP135598.RAb61YkZVf8IOmOevZEHNvgDRhN3EuycFK1xlOw2Ev5Jk130_assertion description "[The effect of hyperinsulinemia on TRAIL expression in diabetic and normal rats and in humans with type 2 diabetes mellitus is reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135598.RAb61YkZVf8IOmOevZEHNvgDRhN3EuycFK1xlOw2Ev5Jk130_provenance.
- NP135603.RAajBLq3vV7cvKpQSaj1Iy-29WI1_oB0kc7zlqrotbsQw130_assertion description "[the risk of acquiring coronary artery disease in patients with type 2 diabetes mellitus increases significantly in the presence of the 128R mutant allele of the E-selectin gene ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135603.RAajBLq3vV7cvKpQSaj1Iy-29WI1_oB0kc7zlqrotbsQw130_provenance.
- NP135606.RAV_oMuUVRoyfd0ysHf53CHsZ5AwolEHa62zsUO7Tsuqo130_assertion description "[LPIN1 messenger RNA levels positively correlated with insulin sensitivity in all subjects with obesity, NIDDM, and HIV-associated lipodystrophy ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135606.RAV_oMuUVRoyfd0ysHf53CHsZ5AwolEHa62zsUO7Tsuqo130_provenance.
- NP135607.RAVwQpcwYoX9xpJ_XMV4isp5aiSk0-fg4lPK9YXT_KBBs130_assertion description "[Increased oxidative stress is associated with elevated blood adrenomedullin levels in hypertensive NIDDM patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135607.RAVwQpcwYoX9xpJ_XMV4isp5aiSk0-fg4lPK9YXT_KBBs130_provenance.
- NP135611.RAcKoE75pnimJug7xNjYken3-yRzB6-DJrr-IUBDd7NZU130_assertion description "[No association betwween -429T/C and -37T/A polymorphism in RAGE gene promoter with diabetic retinopathy in NIDDM in Chinese patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135611.RAcKoE75pnimJug7xNjYken3-yRzB6-DJrr-IUBDd7NZU130_provenance.
- NP135616.RAcLLRVD65Lfb00jQYdUDyMeVMQj6sVcBJpDw2TGr_TWM130_assertion description "[a V290M mutation, observed in type 2 diabetes mellitus, adversely affects the binding of the secondary peptide to PPARgamma ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135616.RAcLLRVD65Lfb00jQYdUDyMeVMQj6sVcBJpDw2TGr_TWM130_provenance.
- NP135619.RASJb9p62lYUnkA9-V1dM1GJOEKZLe4mXRP-Jxvp2OEb8130_assertion description "[genetic variation at the PPARG loci may confer higher cardiovascular disease risk in patients with type 2 diabetes mellitus ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135619.RASJb9p62lYUnkA9-V1dM1GJOEKZLe4mXRP-Jxvp2OEb8130_provenance.
- NP135621.RAXVKvyGJ9GOp71KUU6dltWU69P9LZPjfmIXbRREexEk4130_assertion description "[The researchers found that the rs17036314, rs1801282, and rs1152003 alleles were associated with an increased risk of type 2 diabetes mellitus but lifestyle changes in the rs1152003 group modified risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135621.RAXVKvyGJ9GOp71KUU6dltWU69P9LZPjfmIXbRREexEk4130_provenance.
- NP135627.RARt2VLKE6nm31VSG9l0xKtT3k8MjpnGCEcpKg_zW-a2Q130_assertion description "[Subjects with S89N amino acid substitution are more insulin-resistant and thus more susceptible to type 2 diabetes mellitus development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135627.RARt2VLKE6nm31VSG9l0xKtT3k8MjpnGCEcpKg_zW-a2Q130_provenance.
- NP135628.RAUNXWsRAVpf9QbZ9lAE0CGuZ4TA2DqvXw8Zc7gy2y4YM130_assertion description "[ENPP1 is a genetic determinant of obesity-related phenotypes in a Mexican American population with type 2 diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135628.RAUNXWsRAVpf9QbZ9lAE0CGuZ4TA2DqvXw8Zc7gy2y4YM130_provenance.
- NP135629.RASyt9FCTcsZCTSYOakcG7sN_3-qRDtO7oi2CCwS7OUCQ130_assertion description "[PCK1 has been implicated as one of many genes associated with type 2 diabetes mellitus [review]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135629.RASyt9FCTcsZCTSYOakcG7sN_3-qRDtO7oi2CCwS7OUCQ130_provenance.
- NP135634.RAZIvCVObP5iLIeGiGW7P-_wSTuq2FFEy-0bzNWZxLmjw130_assertion description "[Almost 90% of the MODY cases in the group studied are explained by mutations in the major genes GCK (MODY2) and HNF-1alpha (MODY3), although differences in the relative prevalence of each form could be partly due to patient referral bias.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135634.RAZIvCVObP5iLIeGiGW7P-_wSTuq2FFEy-0bzNWZxLmjw130_provenance.
- NP135636.RAa3TauNk4oncM_obLp6AE3tVu30Ku0_ph8cGKUpWH8oA130_assertion description "[relative prevalence of 3% of MODY1 (two different mutations in two families), 10% of MODY2 (seven in eight), and 36% of MODY3 (21 in 28) among Danish kindred clinically diagnosed as MODY ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135636.RAa3TauNk4oncM_obLp6AE3tVu30Ku0_ph8cGKUpWH8oA130_provenance.
- NP135637.RAWcqzUOW6yE4GlOcUPQOv1JMSbCvPDfOZdgFLJfrj0uo130_assertion description "[A study evaluating the extent to which common variation in the six known maturity-onset diabetes of the young (MODY) genes, which cause a monogenic form of type 2 diabetes, is associated with type 2 diabetes is presented.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135637.RAWcqzUOW6yE4GlOcUPQOv1JMSbCvPDfOZdgFLJfrj0uo130_provenance.
- NP135642.RAfDSzZABMniorkEMAQ0q6_KobNkkVC9iYtmNGJBYZfEk130_assertion description "[The variation of calpain-10 gene has impact on the variation of clinical metabolic parameter levels related to type 2 diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135642.RAfDSzZABMniorkEMAQ0q6_KobNkkVC9iYtmNGJBYZfEk130_provenance.
- NP135648.RAUUDFJtQMRi_KDEo5EJ6C3KFeND6e8I_zvkPChCwABa4130_assertion description "[IAPP is found in 90% of patients with NIDDM at post-mortem/extensive amyloidosis is associated with decreased islet function and requirement for insulin therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135648.RAUUDFJtQMRi_KDEo5EJ6C3KFeND6e8I_zvkPChCwABa4130_provenance.
- NP135658.RASCRJkGpUXy7YOwlGklUPhB7CQ8nNZD5gCS0SmpMGrms130_assertion description "[The DD genotype and/or D allele of the ACE gene may increase risk for developing NIDDM, but not metabolic syndrome x.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135658.RASCRJkGpUXy7YOwlGklUPhB7CQ8nNZD5gCS0SmpMGrms130_provenance.
- NP135662.RAY94YtVo5ZftefvxIlUpFligWptdU418XecufH-4Nhn8130_assertion description "[Results suggest the additive effect of angiotensin I-converting enzyme (ACE) and heart chymase (CMA) gene polymorphisms on the increase in left ventricular mass in NIDDM patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135662.RAY94YtVo5ZftefvxIlUpFligWptdU418XecufH-4Nhn8130_provenance.
- NP135671.RATDCESwKka-tEfVFMCO8wjDizRNsBS5enguMUm-tL5jM130_assertion description "[IL-6 and tumor necrosis factor-alpha levels were higher in type 2 diabetes mellitus patients with proliferative diabetic retinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135671.RATDCESwKka-tEfVFMCO8wjDizRNsBS5enguMUm-tL5jM130_provenance.
- NP135672.RASwHHEB38f2pks0yb3M2V-UQRupwiNxjgVAR7l99qA34130_assertion description "[IRS-2-dependent IL-4 signaling in macrophages is impaired in models of type 2 diabetes mellitus through a mechanism that relies on insulin/glucose-dependent Ser/Thr-Pro motif serine phosphorylation mediated by the mTOR pathway ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135672.RASwHHEB38f2pks0yb3M2V-UQRupwiNxjgVAR7l99qA34130_provenance.
- NP135673.RAdU196uZa7UygHuEDR2QDnuYtyKk2DL5Y6_UoNHvCd0U130_assertion description "[A single nucleotide polymorphism in the adiponectin gene is associated with carotid artery plaques and may contribute to atheroggenesis in type 2 diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135673.RAdU196uZa7UygHuEDR2QDnuYtyKk2DL5Y6_UoNHvCd0U130_provenance.
- NP135675.RAYBrOgLUNC1_Fb218QXPgbN4p5V0_nVmm0j2_ZnsNE5U130_assertion description "[IL-1beta (-511C/T) and interleukin-1 receptor antagonist (VNTR) polymorphisms are significantly associated with increased risk of Type 2 diabetes mellitus as well as associated complications in North Indians ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135675.RAYBrOgLUNC1_Fb218QXPgbN4p5V0_nVmm0j2_ZnsNE5U130_provenance.
- NP135679.RAeQGfJC05Il22XvIBeYLvIcn0EpeOixZyhApB97IIOOU130_assertion description "[gene and genetic susceptibility to type 2 diabetes mellitus in a Polish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135679.RAeQGfJC05Il22XvIBeYLvIcn0EpeOixZyhApB97IIOOU130_provenance.
- NP135680.RAQLVpxVVBaQRnA8oJAkQkVSDP4fLzXebVQ8Asz1A7ci4130_assertion description "[Relation between glycemic control, hyperinsulinaemia and plasma concentration in patients with glucose intolerance or niddm ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135680.RAQLVpxVVBaQRnA8oJAkQkVSDP4fLzXebVQ8Asz1A7ci4130_provenance.
- NP135683.RAePgXQ0bU3DD_ifIrLGLG-pEWbPIuBq9eVWS0tcmDRG0130_assertion description "[a possible marker of renal function in patients with type 2 diabetes mellitus ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135683.RAePgXQ0bU3DD_ifIrLGLG-pEWbPIuBq9eVWS0tcmDRG0130_provenance.
- NP135708.RAci-psp92a079WMVmIulQPPbf0bl_D0-LuBl2y285KHY130_assertion description "[HLA DRB1, DQB1 and insulin promoter VNTR polymorphisms: interactions and the association with adult-onset diabetes mellitus in Czech patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135708.RAci-psp92a079WMVmIulQPPbf0bl_D0-LuBl2y285KHY130_provenance.
- NP135714.RAZTRpeXuvS1axcx39FQ_vb0zSYBOm3gpI3Mfcq3rko0A130_assertion description "[first study to suggest an effect of a genetic polymorphism of the CD14 gene on both insulin sensitivity (healthy subjects and type 2 diabetic patients) and endothelial dysfunction (sICAM-1 levels) in type 2 diabetes mellitus ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135714.RAZTRpeXuvS1axcx39FQ_vb0zSYBOm3gpI3Mfcq3rko0A130_provenance.
- NP135716.RAXPKrnbXsumXUHCshCS-CDV5JgaOhjr_BmBA--DvA5A8130_assertion description "[Increased serum levels of glycated albumin, C-reactive protein and tumor necrosis factor-alpha are associated with the presence and severity of coronary artery disease and renal impairment in patients with type 2 diabetes mellitus ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135716.RAXPKrnbXsumXUHCshCS-CDV5JgaOhjr_BmBA--DvA5A8130_provenance.
- NP135718.RAQ2FBjzgA5sLIRMYszlAx6YP5gE1b5tDrCGZZO5MZsT0130_assertion description "[Common genetic variations of ABCA1 had a moderate influence on HDL-C levels and/or coronary heart disease in patients with type 2 diabetes mellitus/2 effects were independent.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135718.RAQ2FBjzgA5sLIRMYszlAx6YP5gE1b5tDrCGZZO5MZsT0130_provenance.
- NP135725.RASqPtU_0jJ3u4ipNp2EaVcL9lMOMUJurF7xb_XHk-ddY130_assertion description "[ABCG1 expression and cholesterol efflux are reduced in patients with type 2 diabetes mellitus ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135725.RASqPtU_0jJ3u4ipNp2EaVcL9lMOMUJurF7xb_XHk-ddY130_provenance.
- NP135727.RAcV_kNMGs7_XpWAqQyQFTqgU9pe3-6G9CbzVKiBos7nk130_assertion description "[whole blood tissue factor procoagulant activity and plasma FVIIa in ten patients with type 2 diabetes mellitus and 11 non-diabetic patients at baseline and 6, 12, 24, and 48 hours (h) after presentation for acute stroke ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135727.RAcV_kNMGs7_XpWAqQyQFTqgU9pe3-6G9CbzVKiBos7nk130_provenance.
- NP135731.RAYcaH0XlpO28MUbY6-1TxlmZUYyiWx8hEXK2aw3-hFUU130_assertion description "[Evidence for an association of the D allele with both presence and severity of neuropathy in patients with type 2 diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135731.RAYcaH0XlpO28MUbY6-1TxlmZUYyiWx8hEXK2aw3-hFUU130_provenance.
- NP135735.RAe-vtwEBQc1h-OuUUL_TVlc8NO07Z0SLpnBoRGoMFeRo130_assertion description "[work suggests a potential role for Fibroplast growth factor 21 (FGF-21) in the pathogenesis of insulin resistance and type 2 diabetes mellitus (T2DM) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135735.RAe-vtwEBQc1h-OuUUL_TVlc8NO07Z0SLpnBoRGoMFeRo130_provenance.
- NP135739.RASoHg4VJpIKzQvP77C6EmcNT8BX6pBMXsL9Y4W8-7svk130_assertion description "[Results suggest the additive effect of angiotensin I-converting enzyme (ACE) and heart chymase (CMA) gene polymorphisms on the increase in left ventricular mass in NIDDM patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135739.RASoHg4VJpIKzQvP77C6EmcNT8BX6pBMXsL9Y4W8-7svk130_provenance.
- NP135740.RAbFHGG1YMXeBf4wM9T37fXu8AAen_ME5xJuFKmUcpVBA130_assertion description "[Basal HSL is decreased in patients with type 2 diabetes mellitus, and this may be a consequence of elevated plasma insulin levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135740.RAbFHGG1YMXeBf4wM9T37fXu8AAen_ME5xJuFKmUcpVBA130_provenance.
- NP135745.RAWphUw0BaSGNSpBfCA7UWji7vPwDjLVICDZ0zq532HJM130_assertion description "[ADD1 gene contributes to risk of hypertension & increases mean common carotid IMT in patients with NIDDM/indicates that ADD1 polymorphism could be useful in identifying hypertensive NIDDM patients with high risk of mortality.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135745.RAWphUw0BaSGNSpBfCA7UWji7vPwDjLVICDZ0zq532HJM130_provenance.
- NP135749.RAV6zEyldPGD56VcVqMwmIpnOLFtS-cdKP2kaKnpkNUaM130_assertion description "[increased plasma level of TAFI may be involved in the mechanism of vascular endothelial damage in patients with type 2 diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135749.RAV6zEyldPGD56VcVqMwmIpnOLFtS-cdKP2kaKnpkNUaM130_provenance.
- NP135752.RAdH2N3b2odfOZUClS9ib4n2MQGsyk4zyDLJV28Zf_LPs130_assertion description "[C-reactive protein has a role in advanced stage beta-cell dysfunction and insulin resistance in patients with type 2 diabetes mellitus ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135752.RAdH2N3b2odfOZUClS9ib4n2MQGsyk4zyDLJV28Zf_LPs130_provenance.
- NP135753.RAQZzRIg41Xsi7SfIe_qCaP6ZrAsNGDwXTtMi5sOwjM7I130_assertion description "[Detection of a putative mutation in a MODY patient identifies transglutaminase 2 as a potential candidate gene in type 2 diabetes ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135753.RAQZzRIg41Xsi7SfIe_qCaP6ZrAsNGDwXTtMi5sOwjM7I130_provenance.
- NP135760.RAbv84xPuy3HcFQoUJep81Blx8JB8XLV5twxkOqrxGHfM130_assertion description "[Omenn syndrome is associated with mutations in DNA ligase IV.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135760.RAbv84xPuy3HcFQoUJep81Blx8JB8XLV5twxkOqrxGHfM130_provenance.
- NP135762.RARd6i7mOjtWsqBuEHQv0WKxhenD7K2hansD_sWdUi-9U130_assertion description "[defect in CD3delta gene in severe combined immunodeficiency is characterized by the absence of T cells but normal B cells ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135762.RARd6i7mOjtWsqBuEHQv0WKxhenD7K2hansD_sWdUi-9U130_provenance.
- NP135763.RAS0Tq5R8Fw4Gy_ZhJc-NDL2lIRw3PKVTVaYhy6Y06cGY130_assertion description "[results suggest that tapasin deficiency is another cause of type I bare lymphocyte syndrome ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135763.RAS0Tq5R8Fw4Gy_ZhJc-NDL2lIRw3PKVTVaYhy6Y06cGY130_provenance.
- NP135766.RAevOMlCrmhXS8wAMRCXvRapj7H2ZtVoL2vQjfAwBAmiU130_assertion description "[Results indicate that the novel R776W missense mutation in RAG-1 is causal in the T (-) B (-) NK (+) severe combined immunodeficiency disease phenotype in Athabascan-speaking Dine Indians from the Canadian Northwest Territories ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135766.RAevOMlCrmhXS8wAMRCXvRapj7H2ZtVoL2vQjfAwBAmiU130_provenance.
- NP135773.RAVSvYOruDTDG95BndG-UfPAYBAZNo_Vf7_uXfiRaWq_Q130_assertion description "[analyzed the phenotype of cells derived from SCID patients with different mutations in the Artemis gene ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135773.RAVSvYOruDTDG95BndG-UfPAYBAZNo_Vf7_uXfiRaWq_Q130_provenance.
- NP135775.RAcUkolCZwyAsf_jvaGDHe2F1sFDBsrBqrNvbT_RORLUA130_assertion description "[The expression of HIF-3alpha4 suppresses the growth of tumor xenografts in SCID mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135775.RAcUkolCZwyAsf_jvaGDHe2F1sFDBsrBqrNvbT_RORLUA130_provenance.
- NP135778.RARH1y6vmV6D3waCxhf3I0dsNTzwR3anx6bS7X1Csz2cU130_assertion description "[Ths review focusses on the variation of inherited hypomorphic mutations of recombination activating genes either 1 or 2 (RAG1/2) that have been detected in most Omenn syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135778.RARH1y6vmV6D3waCxhf3I0dsNTzwR3anx6bS7X1Csz2cU130_provenance.
- NP135780.RARDs1R0strm8Bs-DcIsSO6MRbJFHXER1dVuZaJRthFhY130_assertion description "[Expression correlates with tumor invasiveness patterns in human oral squamous cell carcinoma xenografts in SCID mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135780.RARDs1R0strm8Bs-DcIsSO6MRbJFHXER1dVuZaJRthFhY130_provenance.
- NP135782.RARdoJyneMg_san1MwefYmlmR02VPCMV_rVhCU6OQM-Yc130_assertion description "[The first demonstration that JAK3 mutations underlie autosomal recessive severe combined immunodeficiency ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135782.RARdoJyneMg_san1MwefYmlmR02VPCMV_rVhCU6OQM-Yc130_provenance.
- NP135783.RASwVywlxLx45NxHc_M-xrj2_aN4nZZiMtNp7mGFity_s130_assertion description "[a SNAP29 mutation codes for a SNARE protein involved in intracellular trafficking and causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135783.RASwVywlxLx45NxHc_M-xrj2_aN4nZZiMtNp7mGFity_s130_provenance.
- NP135789.RATPafEyama3grBMZjj4otNjmKVBMgCl9BgmHzUYpRGuA130_assertion description "[Neutral lipid storage disease subgroup characterized by mild myopathy, absence of ichthyosis and mutations in both alleles of adipose triglyceride lipase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135789.RATPafEyama3grBMZjj4otNjmKVBMgCl9BgmHzUYpRGuA130_provenance.