Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Oda, Takaya; Elkahloun, Abdel G.; Pike, Brian L.; Okajima, Kazuki; Krantz, Ian D.; Genin, Anna; Piccoli, David A.; Meltzer, Paul S.; Spinner, Nancy B.; Collins, Francis S.; Chandrasekharappa, Settara C.

doi:10.1038/ng0797-235

Cited by 1,066 publications

(677 citation statements)

References 29 publications

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“…: cardiovascular and renal defects). 4,7,8,23,[37][38][39] In view of such variability in clinical presentation, the ability to analyze the nucleotide sequence facilitates studies of phenotypegenotype relationship for individual genes. In addition, we chose to add SERPINA1 to the chip as an investigative tool for studies examining how α1AT polymorphisms may serve as disease modifiers in subjects harboring mutations in one of the other cholestatic genes, or in subjects with other forms of liver disease in a fashion described for patients with chronic pulmonary diseases.…”

Section: Discussionmentioning

confidence: 99%

Novel Resequencing Chip Customized to Diagnose Mutations in Patients With Inherited Syndromes of Intrahepatic Cholestasis

et al. 2007

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Background and Aims-Inherited syndromes of intrahepatic cholestasis commonly result from mutations in the genes SERPINA1 (α1-antitrypsin deficiency), JAG1 (Alagille syndrome), ATP8B1 (Progressive Familial Intrahepatic Cholestasis type 1/PFIC1), ABCB11 (PFIC2), and ABCB4 (PFIC3). However, the large gene sizes and lack of mutational hotspots make it difficult to survey for disease-causing mutations in clinical practice. Here, we aimed to develop a technological tool that reads out the nucleotide sequence of these genes rapidly and accurately.

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Section: Discussionmentioning

confidence: 99%

Novel Resequencing Chip Customized to Diagnose Mutations in Patients With Inherited Syndromes of Intrahepatic Cholestasis

et al. 2007

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“…15). Cloned in 1997 (Li et al, 1997;Oda et al, 1997), numerous mutations have been found in affected patients. All types of mutation have been described-nonsense, missense, splice site, frameshift, and deletion.…”

Section: Alagille Syndrome (Arteriohepatic Dysplasia) Jagged1 and Nomentioning

confidence: 99%

Abnormal vertebral segmentation and the notch signaling pathway in man

Turnpenny

Alman

Cornier

et al. 2007

Developmental Dynamics

145

120

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Abnormal vertebral segmentation (AVS) in man is a relatively common congenital malformation but cannot be subjected to the scientific analysis that is applied in animal models. Nevertheless, some spectacular advances in the cell biology and molecular genetics of somitogenesis in animal models have proved to be directly relevant to human disease. Some advances in our understanding have come through DNA linkage analysis in families demonstrating a clustering of AVS cases, as well as adopting a candidate gene approach. Only rarely do AVS phenotypes follow clear Mendelian inheritance, but three genes-DLL3, MESP2, and LNFG-have now been identified for spondylocostal dysostosis (SCD). SCD is characterized by extensive hemivertebrae, trunkal shortening, and abnormally aligned ribs with points of fusion. In familial cases clearly following a Mendelian pattern, autosomal recessive inheritance is more common than autosomal dominant and the genes identified are functional within the Notch signaling pathway. Other genes within the pathway cause diverse phenotypes such as Alagille syndrome (AGS) and CADASIL, conditions that may have their origin in defective vasculogenesis. Here, we deal mainly with SCD and AGS, and present a new classification system for AVS phenotypes, for which, hitherto, the terminology has been inconsistent and confusing.

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“…It may not be clinically evident at birth but develops until adolescence [3]. Genes that are associated with vertebral malformation have been identified in several studies [4][5][6], and similar defects have been induced in animal models by hypoxia or toxic agents [7,8].…”

Section: Introductionmentioning

confidence: 99%

Epidemiology of adolescent idiopathic scoliosis

Konieczny

Senyurt

Krauspe

2013

Journal of Children's Orthopaedics

806

550

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Adolescent idiopathic scoliosis is a common disease with an overall prevalence of 0.47-5.2 % in the current literature. The female to male ratio ranges from 1.5:1 to 3:1 and increases substantially with increasing age. In particular, the prevalence of curves with higher Cobb angles is substantially higher in girls than in boys: The female to male ratio rises from 1.4:1 in curves from 10°to 20°up to 7.2:1 in curves [40°. Curve pattern and prevalence of scoliosis is not only influenced by gender, but also by genetic factors and age of onset. These data obtained from school screening programs have to be interpreted with caution, since methods and cohorts of the different studies are not comparable as age groups of the cohorts and diagnostic criteria differ substantially. We do need data from studies with clear standards of diagnostic criteria and study protocols that are comparable to each other.

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Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Cited by 1,066 publications

References 29 publications

Novel Resequencing Chip Customized to Diagnose Mutations in Patients With Inherited Syndromes of Intrahepatic Cholestasis

Novel Resequencing Chip Customized to Diagnose Mutations in Patients With Inherited Syndromes of Intrahepatic Cholestasis

Abnormal vertebral segmentation and the notch signaling pathway in man

Epidemiology of adolescent idiopathic scoliosis

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