Mutant Proteins < Mutation < Mutation, Missense

Facettes : AffPays.f Mesh.f AffRegion.f AffVille.f

List of bibliographic references

Number of relevant bibliographic references: 112.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000078 (1999)	A H Child [Royaume-Uni] ; J. Beninson ; M. Sarfarazi	Cause of primary congenital lymphedema.
000337 (2000)	S C Robertson [États-Unis] ; J A Tynan ; D J Donoghue	RTK mutations and human syndromeswhen good receptors turn bad.
000352 (2000)	Alexandre Irrthum ; Marika J. Karkkainen ; Koen Devriendt [Belgique] ; Kari Alitalo [Finlande] ; Miikka Vikkula [Belgique]	Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase
000413 (2000)	M N Nanjee [Royaume-Uni] ; C J Cooke ; W L Olszewski ; N E Miller	Lipid and apolipoprotein concentrations in prenodal leg lymph of fasted humans. Associations with plasma concentrations in normal subjects, lipoprotein lipase deficiency, and LCAT deficiency.
000428 (2000)	S E Hong [États-Unis] ; Y Y Shugart ; D T Huang ; S A Shahwan ; P E Grant ; J O Hourihane ; N D Martin ; C A Walsh	Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
000486 (2000)	Jianming Fang ; Susan L. Dagenais ; Robert P. Erickson ; Martin F. Arlt ; Michael W. Glynn ; Jerome L. Gorski ; Laurie H. Seaver [États-Unis] ; Thomas W. Glover	Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome
000568 (2001)	S. Mansour [Royaume-Uni] ; H. Woffendin ; S. Mitton ; I. Jeffery ; T. Jakins ; S. Kenwrick ; V A Murday	Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.
000569 (2001)	R. Döffinger [France] ; A. Smahi ; C. Bessia ; F. Geissmann ; J. Feinberg ; A. Durandy ; C. Bodemer ; S. Kenwrick ; S. Dupuis-Girod ; S. Blanche ; P. Wood ; S H Rabia ; D J Headon ; P A Overbeek ; F. Le Deist ; S M Holland ; K. Belani ; D S Kumararatne ; A. Fischer ; R. Shapiro ; M E Conley ; E. Reimund ; H. Kalhoff ; M. Abinun ; A. Munnich ; A. Israël ; G. Courtois ; J L Casanova	X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
000599 (2001)	L R Osborne	'Forkhead' gene expression balanced on a knife-edge.
000621 (2001)	R P Erickson	Lymphedema-distichiasis and FOXC2 gene mutations.
000659 (2001)	D N Finegold [États-Unis] ; M A Kimak ; E C Lawrence ; K L Levinson ; E M Cherniske ; B R Pober ; J W Dunlap ; R E Ferrell	Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
000731 (2001)	R. Bell [Royaume-Uni] ; G. Brice ; A H Child ; V A Murday ; S. Mansour ; C J Sandy ; J R Collin ; A F Brady ; D F Callen ; K. Burnand ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; S. Jeffery	Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.
000767 (2001)	M. Vikkula [Belgique] ; L M Boon ; J B Mulliken	Molecular genetics of vascular malformations.
000799 (2001)	R. Erickson ; S. Dagenais ; M. Caulder ; C. Downs ; G. Herman ; M. Jones ; W. Kerstjens-Frederi. ; A. Lidral ; M. Mcdonald ; C. Nelson ; M. Witte ; T. Glover	Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations
000980 (2002)	Sophie Dupuis-Girod [France] ; Nadège Corradini ; Smail Hadj-Rabia ; Jean-Christophe Fournet ; Laurence Faivre ; Françoise Le Deist ; Philippe Durand ; Rainer Döffinger ; Asma Smahi ; Alain Israel ; Gilles Courtois ; Nicole Brousse ; Stéphane Blanche ; Arnold Munnich ; Alain Fischer ; Jean-Laurent Casanova ; Christine Bodemer	Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
000B03 (2002)	S. Jeffery	How double eyelashes give you swollen legs
000B32 (2002)	Elias I. Traboulsi [États-Unis] ; Khouloud Al-Khayer ; Masayuki Matsumoto ; Mark A. Kimak ; Susan Crowe ; Steven E. Wilson ; David N. Finegold ; Robert E. Ferrell ; David M. Meisler	Lymphedema-distichiasis syndrome and FOXC2 gene mutation.
000E72 (2003)	A. Evans ; R. Bell ; G. Brice ; P. Comeglio ; C. Lipede ; S. Jeffery ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; M. Sarfarazi ; A. Child	Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema
001725 (2003)	Brian P. Brooks [États-Unis] ; Susan L. Dagenais ; Christine C. Nelson ; Michael W. Glynn ; Mark S. Caulder ; Catherine A. Downs ; Thomas W. Glover	Mutation of the FOXC2 gene in familial distichiasis.
001754 (2004)	Brett M. Hosking [Australie] ; S-C Mary Wang ; Meredith Downes ; Peter Koopman ; George E O. Muscat	The VCAM-1 gene that encodes the vascular cell adhesion molecule is a target of the Sry-related high mobility group box gene, Sox18.
001B00 (2004)	Tatiana V. Petrova [Finlande] ; Terhi Karpanen ; Camilla Norrmén ; Russell Mellor ; Tomoki Tamakoshi ; David Finegold ; Robert Ferrell ; Dontscho Kerjaschki ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; Seppo Yl Herttuala ; Naoyuki Miura ; Kari Alitalo [Finlande]	Defective valves and abnormal mural cell recruitment underlie lymphatic vascular failure in lymphedema distichiasis.

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