|
1
|
Alagille D, Odièvre M, Gautier M and
Dommergues JP: Hepatic ductular hypoplasia with characteristic
facies, vertebral malformations, retarded physical, mental, and
sexual development, and cardiac murmur. J Pediatr. 86:63–71. 1975.
View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Alagille D, Estrada A, Hadchouel M,
Gautier M, Odièvre M and Dommergues JP: Syndromic paucity of
interlobular bile ducts (Alagille syndrome or arteriohepatic
dysplasia): Review of 80 cases. J Pediatr. 110:195–200. 1987.
View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Giannakudis J, Röpke A, Kujat A,
Krajewska-Walasek M, Hughes H, Fryns JP, Bankier A, Amor D,
Schlicker M and Hansmann I: Parental mosaicism of JAG1 mutations in
families with Alagille syndrome. Eur J Hum Genet. 9:209–216. 2001.
View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Yuan ZR, Kohsaka T, Ikegaya T, Suzuki T,
Okano S, Abe J, Kobayashi N and Yamada M: Mutational analysis of
the Jagged 1 gene in Alagille syndrome families. Hum Mol Genet.
7:1363–1369. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Kim BJ and Fulton AB: The genetics and
ocular findings of Alagille syndrome. Semin Ophthalmol. 22:205–210.
2007. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Danks DM, Campbell PE, Jack I, Rogers J
and Smith AL: Studies of the aetiology of neonatal hepatitis and
biliary atresia. Arch Dis Child. 52:360–367. 1977. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Emerick KM, Rand EB, Goldmuntz E, Krantz
ID, Spinner NB and Piccoli DA: Features of Alagille syndrome in 92
patients: Frequency and relation to prognosis. Hepatology.
29:822–829. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Krantz ID, Colliton RP, Genin A, Rand EB,
Li L, Piccoli DA and Spinner NB: Spectrum and frequency of jagged1
(JAG1) mutations in Alagille syndrome patients and their families.
Am J Hum Genet. 62:1361–1369. 1998. View
Article : Google Scholar : PubMed/NCBI
|
|
9
|
Crosnier C, Driancourt C, Raynaud N,
Dhorne-Pollet S, Pollet N, Bernard O, Hadchouel M and
Meunier-Rotival M: Mutations in JAGGED1 gene are predominantly
sporadic in Alagille syndrome. Gastroenterology. 116:1141–1148.
1999. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Spinner NB, Colliton RP, Crosnier C,
Krantz ID, Hadchouel M and Meunier-Rotival M: Jagged1 mutations in
Alagille syndrome. Hum Mutat. 17:18–33. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Li L, Krantz ID, Deng Y, Genin A, Banta
AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, et al: Alagille
syndrome is caused by mutations in human Jagged1, which encodes a
ligand for Notch1. Nat Genet. 16:243–251. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Oda T, Elkahloun AG, Pike BL, Okajima K,
Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS
and Chandrasekharappa SC: Mutations in the human Jagged1 gene are
responsible for Alagille syndrome. Nat Genet. 16:235–242. 1997.
View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Artavanis-Tsakonas S, Matsuno K and
Fortini ME: Notch signaling. Science. 268:225–232. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Callahan R and Egan SE: Notch signaling in
mammary development and oncogenesis. J Mammary Gland Biol
Neoplasia. 9:145–163. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Hansson EM, Lendahl U and Chapman G: Notch
signaling in development and disease. Semin Cancer Biol.
14:320–328. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Harper JA, Yuan JS, Tan JB, Visan I and
Guidos CJ: Notch signaling in development and disease. Clin Genet.
64:461–472. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Turnpenny PD and Ellard S: Alagille
syndrome: Pathogenesis, diagnosis and management. Eur J Hum Genet.
20:251–257. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Yuan ZR, Kohsaka T, Ikegaya T, Suzuki T,
Okano S, Abe J, Kobayashi N and Yamada M: Mutational analysis of
the Jagged 1 gene in Alagille syndrome families. Hum Mole Genet.
7:1363–1369. 1998. View Article : Google Scholar
|
|
19
|
Krantz ID, Smith R, Colliton RP, Tinkel H,
Zackai EH, Piccoli DA, Goldmuntz E and Spinner NB: Jagged1
mutations in patients ascertained with isolated congenital heart
defects. Am J Med Genet. 84:56–60. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Onouchi Y, Kurahashi H, Tajiri H, Ida S,
Okada S and Nakamura Y: Genetic alterations in the JAG1 gene in
Japanese patients with Alagille syndrome. J Hum Genet. 44:235–239.
1999. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Pilia G, Uda M, Macis D, Frau F, Crisponi
L, Balli F, Barbera C, Colombo C, Frediani T, Gatti R, et al:
Jagged-1 mutation analysis in Italian Alagille syndrome patients.
Hum Mutat. 14:394–400. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Crosnier C, Attié-Bitach T, Encha-Razavi
F, Audollent S, Soudy F, Hadchouel M, Meunier-Rotival M and
Vekemans M: JAGGED1 gene expression during human embryogenesis
elucidates the wide phenotypic spectrum of Alagille syndrome.
Hepatology. 32:574–581. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Heritage ML, MacMillan JC, Colliton RP,
Genin A, Spinner NB and Anderson GJ: Jagged1 (JAG1) mutation
detection in an Australian Alagille syndrome population. Hum Mutat.
16:408–416. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Colliton RP, Bason L, Lu FM, Piccoli DA,
Krantz ID and Spinner NB: Mutation analysis of Jagged1 (JAG 1) in
Alagille syndrome patients. Hum Mutat. 17:151–152. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Giannakudis J, Röpke A, Kujat A,
Krajewska-Walasek M, Hughes H, Fryns JP, Bankier A, Amor D,
Schlicker M and Hansmann I: Parental mosaicism of JAG1 mutations in
families with Alagille syndrome. Eur J Hum Genet. 9:209–216. 2001.
View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Röpke A, Kujat A, Gräber M, Giannakudis J
and Hansmann I: Identification of 36 novel Jagged1 (JAG1) mutations
in patients with Alagille syndrome. Hum Mutat. 21:1002003.
View Article : Google Scholar
|
|
27
|
McDaniell R, Warthen DM, Sanchez-Lara PA,
Pai A, Krantz ID, Piccoli DA and Spinner NB: NOTCH2 mutations cause
Alagille syndrome, a heterogeneous disorder of the notch signaling
pathway. Am J Hum Genet. 79:169–173. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Kamath BM, Bauer RC, Loomes KM, Chao G,
Gerfen J, Hutchinson A, Hardikar W, Hirschfield G, Jara P, Krantz
ID, et al: NOTCH2 mutations in Alagille syndrome. J Med Genet.
49:138–144. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Penton AL, Leonard LD and Spinner NB:
Notch signaling in human development and disease. Semin Cell Dev
Biol. 23:450–457. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Hu J and Ng PC: SIFT Indel: Predictions
for the functional effects of amino acid insertions/deletions in
proteins. PLoS One. 8:e779402013. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Rudzki C, Ishak KG and Zimmerman HJ:
Chronic intrahepatic cholestasis of sarcoidosis. Am J Med.
59:373–387. 1975. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Morrissette JD, Colliton RP and Spinner
NB: Defective intracellular transport and processing of JAG1
missense mutations in Alagille syndrome. Hum Mol Genet. 10:405–413.
2001. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Lu F, Morrissette JJ and Spinner NB:
Conditional JAG1 mutation shows the developing heart is more
sensitive than developing liver to JAG1 dosage. Am J Hum Genet.
72:1065–1070. 2003. View
Article : Google Scholar : PubMed/NCBI
|
|
34
|
Boyer J, Crosnier C, Driancourt C, Raynaud
N, Gonzales M, Hadchouel M and Meunier-Rotival M: Expression of
mutant JAGGED1 alleles in patients with Alagille syndrome. Hum
Genet. 116:445–453. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Sun X and Artavanis-Tsakonas S: Secreted
forms of DELTA and SERRATE define antagonists of Notch signaling in
Drosophila. Development. 124:3439–3448. 1997.PubMed/NCBI
|
|
36
|
Wong MK, Prudovsky I, Vary C, Booth C,
Liaw L, Mousa S, Small D and Maciag T: A non-transmembrane form of
Jagged-1 regulates the formation of matrix-dependent chord-like
structures. Biochem Biophys Res Commun. 268:853–859. 2000.
View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Vas V, Szilágyi L, Pálóczi K and Uher F:
Soluble Jagged-1 is able to inhibit the function of its multivalent
form to induce hematopoietic stem cell self-renewal in a surrogate
in vitro assay. J Leukoc Biol. 75:714–720. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Kopan R and Weintraub H: Mouse notch:
Expression in hair follicles correlates with cell fate
determination. J Cell Biol. 121:631–641. 1993. View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Robey E, Chang D, Itano A, Cado D,
Alexander H, Lans D, Weinmaster G and Salmon P: An activated form
of Notch influences the choice between CD4 and CD8 T cell lineages.
Cell. 87:483–492. 1996. View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Wong MK, Prudovsky I, Vary C, Booth C,
Liaw L, Mousa S, Small D and Maciag T: A non-transmembrane form of
Jagged-1 regulates the formation of matrix-dependent chord-like
structures. Biochem Biophys Res Commun. 268:853–859. 2000.
View Article : Google Scholar : PubMed/NCBI
|
|
41
|
Small D, Kovalenko D, Kacer D, Liaw L,
Landriscina M, Di Serio C, Prudovsky I and Maciag T: Soluble Jagged
1 represses the function of its transmembrane form to induce the
formation of the Src-dependent chord-like phenotype. J Biol Chem.
276:32022–32030. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Lindsell CE, Shawber CJ, Boulter J and
Weinmaster G: Jagged: A mammalian ligand that activates Notch1.
Cell. 80:909–917. 1995. View Article : Google Scholar : PubMed/NCBI
|
