A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
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S. Robertson | S. Aftimos | L. Bicknell | J. Pitt | M. Maw | Ram Ramadas
[1] R. Asial,et al. Geroderma Osteodysplastica. Report of a New Family , 2006, Pediatric dermatology.
[2] Katherine H Kim,et al. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. , 2006, American journal of human genetics.
[3] S. Phadke,et al. Cutis Laxa Type II and Wrinkly Skin Syndrome: Distinct Phenotypes , 2006, Pediatric dermatology.
[4] Edward R B McCabe,et al. Single-gene disorders: what role could moonlighting enzymes play? , 2005, American journal of human genetics.
[5] R. Wevers,et al. Defective protein glycosylation in patients with cutis laxa syndrome , 2005, European Journal of Human Genetics.
[6] M. Baumgartner,et al. Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline , 2005, European Journal of Pediatrics.
[7] Constance J Jeffery,et al. Molecular mechanisms for multitasking: recent crystal structures of moonlighting proteins. , 2004, Current opinion in structural biology.
[8] O. Bohorov,et al. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder , 2004, Nature Medicine.
[9] Steven Henikoff,et al. SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..
[10] Paul Coucke,et al. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. , 2002, Human molecular genetics.
[11] L. Al-Gazali,et al. Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? , 2001, American journal of medical genetics.
[12] L Kruglyak,et al. Efficient multipoint linkage analysis through reduction of inheritance space. , 2001, American journal of human genetics.
[13] M. Baumgartner,et al. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. , 2000, Human molecular genetics.
[14] J. Zlotogora. Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. , 1999, American journal of medical genetics.
[15] C. Obie,et al. Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. , 1999, The Journal of biological chemistry.
[16] R. Asial,et al. Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers , 1999, Pediatric dermatology.
[17] P. Hušek,et al. Chloroformates in gas chromatography as general purpose derivatizing agents. , 1998, Journal of chromatography. B, Biomedical sciences and applications.
[18] M. Tassabehji,et al. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. , 1998, Human molecular genetics.
[19] L Kruglyak,et al. Parametric and nonparametric linkage analysis: a unified multipoint approach. , 1996, American journal of human genetics.
[20] E. Lander,et al. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results , 1995, Nature Genetics.
[21] D. Goldstein,et al. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus , 1994, Nature Genetics.
[22] Eric S. Lander,et al. Genetic dissection of complex traits. , 1994, Science.
[23] Cécile Fizames,et al. The 1993–94 Généthon human genetic linkage map , 1994, Nature Genetics.
[24] B. Pontz,et al. Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome) , 1986, European Journal of Pediatrics.
[25] M. E. Jones,et al. Pyrroline-5-carboxylate synthesis from glutamate by rat intestinal mucosa. Subcellular localization and temperature stability. , 1983, The Journal of biological chemistry.
[26] K. Jones,et al. TWO FORMS OF CUTIS LAXA PRESENTING IN THE NEWBORN PERIOD , 1978, Acta paediatrica Scandinavica.
[27] E. Gazit,et al. The Wrinkly Skin Syndrome: A new heritable disorder of connective tissue , 1973, Clinical genetics.
[28] M. Ben-bassat,et al. CUTIS LAXA ASSOCIATED WITH SEVERE INTRAUTERINE GROWTH RETARDATION AND CONGENITAL DISLOCATION OF THE HIP , 1971, Acta paediatrica Scandinavica.
[29] E. Moens,et al. Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome? , 1968, Helvetica paediatrica acta.
[30] Gert Matthijs,et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 , 2008, Nature Genetics.
[31] M. Cintra,et al. Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review , 2005 .
[32] Cohen Mm,et al. Craniofacial manifestations of Ehlers-Danlos syndromes, cutis laxa syndromes, and cutis laxa-like syndromes. , 1989 .
[33] A. Kavadias,et al. De Barsy syndrome. , 1982, Progress in clinical and biological research.