scholarly journals Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( HNF1B ) Molecular Defects

Diabetes Care ◽  
2017 ◽  
Vol 40 (11) ◽  
pp. 1436-1443 ◽  
Author(s):  
Danièle Dubois-Laforgue ◽  
Erika Cornu ◽  
Cécile Saint-Martin ◽  
Joël Coste ◽  
Christine Bellanné-Chantelot ◽  
...  
Keyword(s):  
Adult Patients ◽  
Clinical Spectrum ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Molecular Defects ◽  
Long Term Prognosis

Evaluation of Long-term Prognosis and Cerebral Blood Flow in Adult Patients with Moyamoya Disease with and without Vascular Reconstructive Surgery

1997 ◽  
Vol 6 (7) ◽  
pp. 456-463 ◽  
Author(s):  
Kanehisa Kohno ◽  
Shigeyuki Nagato ◽  
Yoshihisa Oka ◽  
Shiro Ohue ◽  
Kou Nakagawa ◽  
...  
Keyword(s):  
Blood Flow ◽  
Cerebral Blood Flow ◽  
Moyamoya Disease ◽  
Reconstructive Surgery ◽  
Adult Patients ◽  
Long Term Prognosis

scholarly journals Intellectual disability in patients with MODY due to hepatocyte nuclear factor 1B (HNF1B) molecular defects

2017 ◽  
Vol 43 (1) ◽  
pp. 89-92 ◽  
Author(s):  
D. Dubois-Laforgue ◽  
C. Bellanné-Chantelot ◽  
P. Charles ◽  
A. Jacquette ◽  
E. Larger ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Molecular Defects

Clinical Spectrum Associated with Hepatocyte Nuclear Factor-1β Mutations

2004 ◽  
Vol 140 (7) ◽  
pp. 510 ◽  
Author(s):  
Christine Bellanné-Chantelot ◽  
Dominique Chauveau ◽  
Jean-François Gautier ◽  
Danièle Dubois-Laforgue ◽  
Séverine Clauin ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor

scholarly journals Suppression of Hepatocyte Nuclear Factor 4 α by Long-term Infection of Hepatitis B Virus Contributes to Tumor Cell Proliferation

2020 ◽  
Vol 21 (3) ◽  
pp. 948
Author(s):  
Soree Park ◽  
Yea Na Ha ◽  
Mehrangiz Dezhbord ◽  
Ah Ram Lee ◽  
Eun-Sook Park ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Hbv Infection ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Model Following ◽  
B Virus ◽  
Hepatocyte Nuclear Factor 4Α

Hepatitis B virus (HBV) infection is a major factor in the development of various liver diseases such as hepatocellular carcinoma (HCC). Among HBV encoded proteins, HBV X protein (HBx) is known to play a key role in the development of HCC. Hepatocyte nuclear factor 4α (HNF4α) is a nuclear transcription factor which is critical for hepatocyte differentiation. However, the expression level as well as its regulatory mechanism in HBV infection have yet to be clarified. Here, we observed the suppression of HNF4α in cells which stably express HBV whole genome or HBx protein alone, while transient transfection of HBV replicon or HBx plasmid had no effect on the HNF4α level. Importantly, in the stable HBV- or HBx-expressing hepatocytes, the downregulated level of HNF4α was restored by inhibiting the ERK signaling pathway. Our data show that HNF4α was suppressed during long-term HBV infection in cultured HepG2-NTCP cells as well as in a mouse model following hydrodynamic injection of pAAV-HBV or in mice intravenously infected with rAAV-HBV. Importantly, HNF4α downregulation increased cell proliferation, which contributed to the formation and development of tumor in xenograft nude mice. The data presented here provide proof of the effect of HBV infection in manipulating the HNF4α regulatory pathway in HCC development.

Lower Lip Pits: Van der Woude or Kabuki Syndrome?

2014 ◽  
Vol 51 (6) ◽  
pp. 729-734 ◽  
Author(s):  
Ferri P. David-Paloyo ◽  
Xuecai Yang ◽  
Ju-Li Lin ◽  
Fen-Hwa Wong ◽  
Yah-Huei Wu-Chou ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Clinical Spectrum ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Multiple Congenital Anomaly ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Long Term Prognosis

Kabuki syndrome (KS) is a multiple congenital anomaly/mental retardation syndrome with characteristic facial features. Despite more than 350 documented cases and recent correlation of MLL2 mutations as a genetic cause, its full clinical spectrum is still being defined. This report describes two patients who were initially diagnosed with Van der Woude syndrome (VWS) based on the presence of lower lip pits. However, this finding can occur with KS, albeit infrequently. For patients with lower lip pits, a thorough evaluation should be made to distinguish between VWS and KS, as there are differences in long-term prognosis.

scholarly journals Suppression of Hepatocyte Nuclear Factor 4 Alpha by Long-Term Infection of Hepatitis B Virus Contributes to Tumor Cell Proliferation

2020 ◽  
Author(s):  
Soree Park ◽  
Yea Na Ha ◽  
Mehrangiz Dezhbord ◽  
Ah Ram Lee ◽  
Eun-Sook Park ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Hbv Infection ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Model Following ◽  
B Virus ◽  
Hepatocyte Nuclear Factor 4

Hepatitis B virus (HBV) infection is a major factor in development of various liver diseases such as hepatocellular carcinoma (HCC). Among HBV encoded proteins, HBV X protein (HBx) is known to play key role in development of HCC. Hepatocyte nuclear factor 4α (HNF4α) is a nuclear transcription factor which is critical for hepatocyte differentiation. However, the expression level as well as its regulatory mechanism in HBV infection have yet to be clarified. Here, we observed the suppression of HNF4α in cells which stably express HBV whole genome or HBx protein alone, while transient transfection of HBV replicon or HBx plasmid had no effect on the HNF4α level. Importantly, in the stable HBV- or HBx-expressing hepatocytes, the downregulated level of HNF4α was restored by inhibiting ERK signaling pathway. Our data showed that HNF4α was suppressed during long-term HBV infection in cultured HepG2-NTCP cells as well as in mouse model following hydrodynamic injection of pAAV-HBV or in mice intravenously infected with rAAV-HBV. Importantly, HNF4α downregulation increased cell proliferation which contributed to the formation and development of tumor in xenograft nude mice. The data presented here provided several proofs for the effect of HBV infection in manipulating HNF4α regulatory pathway in HCC development.

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