CRIGLER-NAJJAR SYNDROME TYPE II IN A CHINESE BOY RESULTING FROM THREE MUTATIONS IN THE BILIRUBIN URIDINE 5′-DIPHOSPHATE-GLUCURONOSYLTRANSFERASE (UGT1A1) GENE AND A FAMILY GENETIC ANALYSIS
Tìm thấy 10,000 tài liệu liên quan tới tiêu đề "Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uri...":
BÁO CÁO KHOA HỌC DIFFERENTIAL GENE EXPRESSION IN AN ELITE HYBRID RICE CULTIVAR ORYZA SATIVA L AND ITS PARENTAL LINES BASED ON SAGE DATA DOC
Differential gene expression in plants is known to be mainly regulated by two forms of mechanisms – cis- and trans-regulations at transcription levels as well as epige- netic and post-transcription modulations [6]. For instance, differential methylation in CpG or C[r]
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CHAPTER 043 JAUNDICE PART 4
Impaired bilirubin conjugation occurs in three genetic conditions:
Crigler-Najjar syndrome, types I and II, and Gilbert's syndrome. Crigler- Najjar type I is an exceptionally rare condition[r]
Crigler-Najjar syndrome, types I and II, and Gilbert's syndrome. Crigler- Najjar type I is an exceptionally rare condition[r]
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A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: A case report
Crigler-Najjar syndrome (CNs) presents as unconjugated hyperbilirubinemia, as a result of UGT1A1 deficiency, and can be categorized in a severe (type I) and mild (type II) phenotype.
BÁO CÁO KHOA HỌC THE FREQUENCY OF NPM1 MUTATIONS IN CHILDHOOD ACUTE MYELOID LEUKEMIA DOC
17. Rau R, Brown P: Nucleophosmin ( NPM1 ) mutations in adult and childhood acute myeloid leukemia: towards definition of a new leukemia entity. Hematol Oncol 2009, 27 :171-181.
18. Linggi B, Müller-Tidow C, van de Locht L, Hu M, Nip J, Serve H, Berdel WE, van de[r]
18. Linggi B, Müller-Tidow C, van de Locht L, Hu M, Nip J, Serve H, Berdel WE, van de[r]
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BAI GIANG DIEN TU MON ANH 9
COMPLETE THE SUMMARY.USE INFORMATION FROM THE PASSAGE A VIETNAMESE BOY NAMED VAN IS LIVING WITH THE PARKER FAMILY IN THE AMERICAN STATE OF 1 OHIO MR PARKER IS A2 FARMER AND MRS PARKER 3 [r]
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Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: A case report
Mutations in the PIGV, PIGO, PIGL, PIGY, PGAP2, PGAP3, and PIGW genes have recently been reported to cause hyperphosphatasia accompanied by mental retardation syndrome (HPMRS); the latter is an autosomalrecessive neurological disorder typically characterised by recurrent seizures, intellectual disab[r]
CHAPTER 127 TREATMENT AND PROPHYLAXIS OF BACTERIAL INFECTIONS PART 6 DOC
administered antibacterial agent that is absorbed (i.e., its bioavailability ) ranges from as little as 10–20% (erythromycin and penicillin G) to nearly 100% [amoxicillin, clindamycin, metronidazole, doxycycline, trimethoprim- sulfamethoxazole (TMP-SMX), li[r]
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Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis
The UGT1A1 gene encodes a responsible enzyme, UDP-glucuronosyltransferase1A1 (UGT1A1), for bilirubin metabolism. Many mutations have already been identified in patients with inherited disorders with unconjugated hyperbilirubinemia, such as Crigler-Najjar syndromes and Gilbert’s syndrome.
PSYCHOSIS IN AN ADOLESCENT GIRL: A COMMON MANIFESTATION IN NIEMANN-PICK TYPE C DISEASE
Niemann-Pick disease type C (NP-C) is a rare autosomal-recessively inherited lysosomal storage disorder. It is caused by mutations in the NPC1 (95%) or NPC2 gene. It is a progressive and highly heterogeneous disease, characterized by the presentation of visceral, neurological, and psychiatric sympto[r]
Ub-ISAP: A streamlined UNIX pipeline for mining unique viral vector integration sites from next generation sequencing data
The analysis of viral vector genomic integration sites is an important component in assessing the safety and efficiency of patient treatment using gene therapy. Alongside this clinical application, integration site identification is a key step in the genetic mapping of viral elements in mutagenesis[r]
BÁO CÁO KHOA HỌC GENETIC CHARACTERIZATION OF PORCINE CIRCOVIRUS 2 FIELD ISOLATES FROM PMWS PIGS POTX
Sequence analysis
Complete viral genomic sequence was generated from sequence data obtained with overlapping sequencing analysis using internal primer sets. The schematic diagram of overlapping sequence is shown in Fig. 3. Complete viral genomic sequences of PC20[r]
Complete viral genomic sequence was generated from sequence data obtained with overlapping sequencing analysis using internal primer sets. The schematic diagram of overlapping sequence is shown in Fig. 3. Complete viral genomic sequences of PC20[r]
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THE GALE GENETIC DISORDERS OF ENCYCLOPEDIA VOL 2 PART 3 PPS
Treatment and management
Treatment is very symptom-specific, as not everyone will have the same needs. For short stature, some individ- uals have responded to growth hormone therapy. The exact cause of the short stature is not well defined, and therapies are curr[r]
Treatment is very symptom-specific, as not everyone will have the same needs. For short stature, some individ- uals have responded to growth hormone therapy. The exact cause of the short stature is not well defined, and therapies are curr[r]
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Human papillomavirus type 16 E1 mutations associated with cervical cancer in a Han Chinese population
Human papillomavirus type 16 (HPV16) is a high-risk HPV type and a potent carcinogen. HPV E1 is one of the most highly conserved proteins and it plays a central role in initiating HPV DNA replication. In current study, we enrolled 161 HPV16-positive cervical cancer patients (case group) and 171 HPV1[r]
ENCYCLOPEDIA OF ANIMAL SCIENCE Q PPT
FROM QTL TO CG (CANDIDATE GENE) TO QTG (QUANTITATIVE TRAIT GENE)
When gene maps of vertebrate species, including humans, are compared, the order of the genes in large chromosomal regions (depending on the particular pair of species compared)[r]
When gene maps of vertebrate species, including humans, are compared, the order of the genes in large chromosomal regions (depending on the particular pair of species compared)[r]
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TÀI LIỆU MANUFACTURING ENGINEER’S REFERENCE BOOK P1 PPTX
molten steel is poured into a lander which conveys it to a
water-cooled mould the base of which is formed by the c + FeO --.) co + Fe previously poured solid metal. This metal is retracted through
the mould which may oscillate about[r]
water-cooled mould the base of which is formed by the c + FeO --.) co + Fe previously poured solid metal. This metal is retracted through
the mould which may oscillate about[r]
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OVEREXPRESSION OF SLC6A1 ASSOCIATES WITH DRUG RESISTANCE AND POOR PROGNOSIS IN PROSTATE CANCER
Solute Carrier Family 6 Member 1 (SLC6A1) has been identified as a cancer-promoting gene in various human cancers, such as clear cell renal cell carcinoma and ovarian cancer.
An optimized approach for annotation of large eukaryotic genomic sequences using genetic algorithm
In this paper, we propose a new gene prediction technique based on Genetic Algorithm (GA) to determine the optimal positions of exons of a gene in a chromosome or genome. The correct identification of the coding and non-coding regions is difficult and computationally demanding
A genetic variant of the NTCP gene is associated with HBV infection status in a Chinese population
To investigate whether genetic variants of the HBV receptor gene NTCP are associated with HBV infection in the Han Chinese population. We sequenced the entire 23 kb NTCP gene from 111 HBeAg-positive HBsAg carriers (PSE group), 110 HBeAg-negative HBsAg carriers (PS group), and 110 control subjects.
HT-eQTL: Integrative expression quantitative trait loci analysis in a large number of human tissues
Expression quantitative trait loci (eQTL) analysis identifies genetic markers associated with the expression of a gene. Most existing eQTL analyses and methods investigate association in a single, readily available tissue, such as blood.
DOWNLOAD TEST BANK FOR MOLECULAR CELL BIOLOGY 7TH EDITION BY LODISH
If two recessive mutations are in different genes then the diploid yeast will show a wild-type phenotype because a wild-type allele of each gene will be present.. Describe the properties[r]
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