Your search matched a total of 342 documents. Results 1 - 10.
Homo sapiens
Gene: ... of subjects with the PAH K274E mutation showed that all individuals with the K274E mutation also exhibited...Disease relevance of PAH We present the case of a girl affected by classical phenylketonuria who has been screened for mutations in the PAH gene. Benzo[ a] pyrene- induced DNA damage and p53...
Mus musculus
Gene: ... Disease relevance of Pah A recombinant adeno- associated virus( rAAV) vector containing the murine Pah- cDNA was generated, pseudotyped with capsids from AAV serotype 8, and delivered into the liver... of metabolism caused by deficiency of the hepatic enzyme phenylalanine hydroxylase( PAH) which leads to high... / Synonyms: PAH
Rattus norvegicus
Gene: ... increased amounts of phenylalanine hydroxylase; and all cells in the culture appear to be induced...Disease relevance of Pah Reuber H4 hepatoma cells were also analyzed for phenylalanine hydroxylase.... violaceum PAH in Escherichia coli will facilitate the analysis of the enzyme mechanism by various... / Synonyms: PAH
Caenorhabditis elegans
Gene: ... High impact information on pah- 1 A phenylalanine hydroxylase gene from the nematode C. elegans is expressed in the hypodermis....
Saccharomyces cerevisiae S288c
Gene: ... Disease relevance of PAH1 Heterologous expression of PAH1 in Escherichia coli confirmed that Pah1p... similar to those of the enzyme purified from S. cerevisiae. High impact information on PAH1 We show... biosynthesis concurrent with a massive expansion of the nucleus. Biological context of PAH1 A gene, SMP2...
Gallus gallus
Gene: ... High impact information on PAH In the goldfish and chick retinas, all serotonin- immunoreactive amacrine cells( S1) were positive for phenylalanine hydroxylase. The PAH activity in the supernatant...M and 1. 0 mM. The PAH activity in liver supernatant was present at a low level in 11 d chick embryos...
Canis lupus familiaris
Gene: ... , CPAH) were similar in infused and contralateral kidneys in all groups studied. Analytical, diagnostic...Disease relevance of PAH Volume expansion with 2. 5% body weight of Ringer solution resulted... and PAH clearance. Hypocapnic hypoxia was associated with increased urine flow, arterial blood pressure...
MeSH term: ... recessive mutations in all enzymes( except sepiapterin reductase) have been described as a cause... by recessive mutations of the gene encoding the hepatic enzyme phenylalanine hydroxylase( PAH). Vitamin B12...) is an autosomal recessive human genetic disorder caused by a deficiency of hepatic phenylalanine hydroxylase( PAH... / Synonyms: Deficiencies, PAH; Deficiency, PAH; PAH Deficiencies
Links to contributing authors:
Steven Johnsen and Donald R. Forsdyke and Kehinde Ross and Andrew Perry and Jonathan Eisen and A. Shimabukuro-Vornhagen and Giuseppe Rotondo and Gordon Laurie and Berkley Lynch and Kung-Hao Liang and Matthias Gstaiger and Thomas Pfeiffer and Marta Ramirez and Grant MacGregor and Jingyu Li and Fedik Rahimov and M El Gizouli and Marta Ramirez Gaite and Oswaldo Ribeiro-filho and Ralf Weigel and Bjoern Hamberger and Alexander Kanitz and Andreas Zankl and Chunming Ding and Maruf Yunus and Jonathan S. Berg and Michael Cariaso and Zakir Thomas and Monique Timberlake-Brady and LC Dore and Nan Shen and R. Eric Collins and Kuang-Mao Chiang and Brendan McMahon and John Chew and Wen-Ming Yang and Robert Hoffmann and J.B. Stewart and Manuela Cucerea and Ignacio García and William James and Thomas Kelder and Gregory Melahn and YINGDE ZHU and Andres Muro and Gabriel Santpere and Jeff Freilich and Junbin Qian and Steffen Poulsen and Eric Villard and Rafael Sidi and Grant Cramer and Chris Sander and Alexandre Chigaev and Florian Uhle and Carl Fulp and Andrew Brown and Xiaozhu Zhou and Corina Dutu and Hilary Spencer and david germano and Abbas Dehghan and Eung-ju PARK and Chris Sander and Albert Vilella and Miao Tian and Anjali Bheda and Michael Nevels and Jun Liu and D Delano and Chitose Taya and Soomi Cheong and David Kavanagh and Maha Karnoub and Hilmar Lapp and Christian Pallasch and Daniel Mietchen and Biju Balakrishnan and Keith Ashman and Juan Carlos Sobrino and Anshu Bhardwaj and Grzegorz Wickiel and Matthew Day and Anthony Sebastian and Vedran Katavic and Liang Long and Barry Wanner and Sarah Snelling and Fernando Montanes and Omobosede Fashedemi and Gustavo Cervantes and Manoj Kumar and Edward D Great and Paul Paukstelis and Roy Soetikno and Ana I Caño-Delgado and Minsoo Choi and Lei Wang and Brenda Riley and A Michelle Moon and Jon Moulton and Mahmoud Elshahawy and Meagan Gillespie and Banundari Rachmawati and Qian Han and Eric Danner and Xavier Fouillet and Madhusudhan Acharya and Brian Young and Chandra Sekhar Mukhopadhyay and shrawan bhattacharjee and Marieke van der Linden and cj hoban and Sandi Pniauskas and jackie gao and Metin Bilgin and Gillian L. Dalgliesh and Karl Wotton and Iveta Herichova and Yuji Morita and Marta Hernandez and Gregor Krings and Marco Briones and Tim D. Smith and Yiumo Michael Chan and Zhenyu Guo and Barry Barclay and Hong Wang and tarali chowdhury and Tilman Brummer and Nuno Faria and Tamir Ben David and Myles Axton and Yannick Fonseca and Francis Castets and Modesto Redrejo-Rodríguez and Bruce Herron and Toshio Fujita and Elena Puccetti and Zhang Zhang and John Osborne and Illes J Farkas and Fernando Andres and Phyllis Pugh and Jonathan Court and Tim Vickers and Nir Friedman and Holger Dick and Ya-Chen Liang and Jonathan Froehlich and Haitham Sobhy and David Abraham and Stephane Krief and Yaroslav Nikolaev and Qiping Feng and d gupta and R Thapar and Susan Wee and Michael Rehman and SOUMITRA GHOSH and Mohamed Eweida and Cedric Uytingco and Nie hongchuan and David Steenblock and Mark A. Kukucka and Zoli Fekete and Sergei Kozlov and Javier Jara and Osama Naguib and Felix Benninger and jean-marc lo-guidice and VASUDEVA BHAT and Anne O. Summers and Bjoern Titz and Anna Levine and Klas Udekwu and Robert Hoffmann
