Literature DB >> 7581392

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

M Bitner-Glindzicz1, P Turnpenny, P Höglund, H Kääriäinen, E M Sankila, S M van der Maarel, Y J de Kok, H H Ropers, F P Cremers, M Pembrey.   

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Year:  1995        PMID： 7581392     DOI： 10.1093/hmg/4.8.1467

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  22 in total

1.  Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.

Authors:  Abram P Vore; Eugene H Chang; Jane E Hoppe; Merlin G Butler; Shawnia Forrester; Michael C Schneider; Luke L H Smith; Daniel W Burke; Colleen A Campbell; Richard J H Smith
Journal:  Arch Otolaryngol Head Neck Surg       Date:  2005-12

2.  Hypothalamic malformations in patients with X-linked deafness and incomplete partition type 3.

Authors:  Ata Siddiqui; Alessandra D'Amico; Giovanna Stefania Colafati; Domenico Cicala; Giacomo Talenti; Kaukab Rajput; Lorenzo Pinelli; Felice D'Arco
Journal:  Neuroradiology       Date:  2019-06-08       Impact factor: 2.804

3.  A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.

Authors:  J-A Prat Matifoll; M Wilson; R Goetti; C Birman; B Bennett; E Peadon; A Prats-Uribe; K Prelog
Journal:  AJNR Am J Neuroradiol       Date:  2020-05-14       Impact factor: 3.825

Review 4.  Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound.

Authors:  Iris Schrijver
Journal:  J Mol Diagn       Date:  2004-11       Impact factor: 5.568

5.  X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4.

Authors:  Gregory J Anger; Susan Crocker; Kyle McKenzie; Kerry K Brown; Cynthia C Morton; Karen Harrison; Jennifer J MacKenzie
Journal:  Am J Audiol       Date:  2014-03       Impact factor: 1.493

6.  Refinement of the locus for non-syndromic sensorineural deafness (DFN2).

Authors:  Bin Cui; Haibing Zhang; Yongzhong Lu; Wei Zhong; Gang Pei; Xiangyin Kong; Landian Hu
Journal:  J Genet       Date:  2004-04       Impact factor: 1.166

7.  Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.

Authors:  Silvia Naranjo; Krysta Voesenek; Elisa de la Calle-Mustienes; Alex Robert-Moreno; Haris Kokotas; Maria Grigoriadou; John Economides; Guy Van Camp; Nele Hilgert; Felipe Moreno; Berta Alsina; Michael B Petersen; Hannie Kremer; José Luis Gómez-Skarmeta
Journal:  Hum Genet       Date:  2010-07-29       Impact factor: 4.132

8.  Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.

Authors:  Thomas Parzefall; Shaked Shivatzki; Danielle R Lenz; Birgit Rathkolb; Kathy Ushakov; Daphne Karfunkel; Yisgav Shapira; Michael Wolf; Manuela Mohr; Eckhard Wolf; Sibylle Sabrautzki; Martin Hrabé de Angelis; Moshe Frydman; Zippora Brownstein; Karen B Avraham
Journal:  Hum Mutat       Date:  2013-05-08       Impact factor: 4.878

9.  [Clinical and molecular genetic analysis of monozygotic twins displaying stapes gusher syndrome (DFN3)].

Authors:  N Oh; S Kupka; F Mirghomizadeh; R Arold; R Zimmermann; N Blin; H P Zenner; M Pfister
Journal:  HNO       Date:  2003-04-11       Impact factor: 1.284

Review 10.  Congenital hearing impairment.

Authors:  Caroline D Robson
Journal:  Pediatr Radiol       Date:  2006-02-08
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