Malformation genes

Articles

• AHI1
  12 October 2004

  jouberin

• CRELD1
  29 September 2003

  CRELD1 codes for a cell adhesion molecule previously known as "cirrin". Locus AVSD2 (3p25). CRELD1 is the founding member of a family of matricellular proteins.
  EGF domains
  Epidermal growth factor-like repeats are a class of cysteine-rich domains that mediate interactions between proteins of diverse function. EGF domains are found in proteins that are either completely secreted or have transmembrane regions that tether the protein to the cell surface.
  Pathology
  missense mutations in (...)

• AKT3
  29 October 2007

  References
  Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet. 2007 Aug;81(2):292-303. PMID: #17668379#

• ACVR2B
  24 July 2007

  Activins
  Activins are gonadal polypeptide hormones that are potent stimulators of FSH secretion and release in vitro.
  Activins are dimers of 2 beta subunits that share extensive sequence homology with transforming growth factor-beta (TGFB) (MIM.190180).
  There are 2 classes of activin receptors, type I and type II.
  Pathology
  germline mutations in left-right axis malformations (situs ambiguus) ventricular inversion (dextrocardia), but intact ventricular septum and normally related (...)

• FGFR1
  18 January 2005

  Pathology
  germ-line mutations of FGFR1
  in Pfeiffer syndrome (MIM.101600)
  in Kallmann syndrome with or without cleft lip/palate, or with bimanual synkinesia, or with multiple dental agenesis (MIM.147950)
  in osteoglophonic dysplasia
  isolated trigonocephaly (MIM.190440)
  isolated trigonocephaly (MIM.190440)
  fusion proteins in cellular proliferations
  BCR-FGFR1 by t(8;22)(p12;q11) in chronic myeloid leukemia (FGFR1 at 8p12 and BCR ar 22q11)
  CEP110-FGFR1 by t(8;9)(p12;q33) in (...)

• MKS1
  27 February 2006

  Functional studies in zebrafish showed that mks1 is necessary for gastrulation movements and that it interacts genetically with known bbs genes.
  Pathology
  Meckel syndrome type 1 is caused by mutation in a gene encoding a component of the flagellar apparatus basal body proteome (MKS1) (MIM.609883).
  See also
  ciliary proteins
  basal body proteins
  References
  Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, (...)

• BMP4
  3 July 2008

  BMP4 is a vital regulatory molecule that functions throughout development in mesoderm induction, tooth development, limb formation, bone induction, and fracture repair.
  BMP4 is a member the transforming growth factor-beta (TGFBs) superfamily, encomprising at least 12 members, including TGFB1 (MIM.190180), TGFB2 (MIM.190220), TGFB3 (MIM.190230), Mullerian inhibitory substance (MIF) (MIM.600957), the bone morphogenetic protein-2A (BMP2A), bone morphogenetic protein-2B (BMP2B) (MIM.112262), (...)

• TBX15
  4 May 2009

  T-box genes (TBXs) encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All contain a common DNA-binding domain, the T box.
  Pathology
  germline mutations in Cousin syndrome (MIM.260660)

• TP63
  4 November 2008

  p63 PO
  Definition: p63 is a nuclear protein encoded by a gene on chromosome 3q27-29 with homology to p53 (a tumour suppressor gene). It has been shown to regulate growth and development in epithelium of the skin, cervix, breast and urogenital tract.
  Images
  p63 in Warthin tumor https://twitter.com/chioseasi/status/872838132428718081
  p63 loss of expression in breast DCIS https://twitter.com/Neuygn/status/893110163300921345
  p63 in adenoid cystic carcinoma of the (...)

• FOXL2
  18 June 2008

  Definition: FOXL2 encodes a forkhead transcription factor. The protein FOXL2 contains a fork-head DNA-binding domain and may play a role in ovarian development and function.
  Mutations in FOXL2 are a cause of blepharophimosis syndrome (BPES) and premature ovarian failure type 3 (MIM.608996).
  Functions
  FOXL2 represses the transcription of aromatase, cholesterol side-chain cleavage enzyme P450scc and cyclin D2 in granulosa cells.
  FoxL2 plays a key role in activin induction of the FSHbeta (...)

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