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Molecular Therapy, ISSN 1525-0016, 03/2017, Volume 25, Issue 3, pp. 780 - 791
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 04/2017, Volume 8
Mutations in GPSM2 cause Chudley-McCullough syndrome (CMCS), an autosomal recessive neurological disorder characterized by early-onset sensorineural deafness... 
HEARING-LOSS | WHIRLIN | INNER-EAR | PROTEIN | ELONGATION | MULTIDISCIPLINARY SCIENCES | MOUSE | UNCONVENTIONAL MYOSIN | SPINDLE ORIENTATION | DEAFNESS DFNB3 | HAIR-CELL STEREOCILIA
Journal Article
Journal Article
Biochemical Society Transactions, ISSN 0300-5127, 11/2018, Volume 46, Issue 6, pp. 1463 - 1473
Retinitis pigmentosa (RP) is the leading cause of inherited blindness. RP is a genetically heterogeneous disorder, with more than 100 different causal genes... 
RHODOPSIN TRANSPORT | WHIRLIN | USHER PROTEIN NETWORK | HUMAN-DISEASE | GENE | CRYSTAL-STRUCTURE | ROD | BIOCHEMISTRY & MOLECULAR BIOLOGY | 208DELG MUTATION | FRAMESHIFT MUTATION | MYOSIN VIIA
Journal Article
Current Biology, ISSN 0960-9822, 03/2019, Volume 29, Issue 6, pp. 921 - 934.e4
The transduction compartment of inner ear hair cells, the hair bundle, is composed of stereocilia rows of graded height, a property essential for sensory... 
EPS8 | GPSM2 | MYO15A | WHRN | hair cell | staircase-like organization | hair bundle | stereocilia | GNAI | HEARING-LOSS | WHIRLIN | INNER-EAR | ANKLE-LINK COMPLEX | BIOCHEMISTRY & MOLECULAR BIOLOGY | UNCONVENTIONAL MYOSIN | DEAFNESS | MYOSIN-XVA | PLANAR POLARITY | PROTEIN COMPLEX | CELL POLARITY | CELL BIOLOGY | Proteins | Analysis
Journal Article
by Lee, SY and Han, JH and Kim, BJ and Oh, SH and Lee, S and Oh, DY and Choi, BY
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, ISSN 1422-0067, 09/2019, Volume 20, Issue 17, p. 4174
PDZD7, a PDZ domain-containing scaffold protein, is critical for the organization of Usher syndrome type 2 (USH2) interactome. Recently, biallelic PDZD7... 
haplotype | founder effect | BIOCHEMISTRY & MOLECULAR BIOLOGY | GUIDELINES | USH2A | CHEMISTRY, MULTIDISCIPLINARY | Arg164Trp | PROTEIN COMPLEX | CHILDREN | WHIRLIN | GENE | USHER-SYNDROME TYPE-2 | DEAFNESS | MUTATIONS | ASSOCIATION | PDZD7 | p.Arg164Trp
Journal Article
Cell Death and Differentiation, ISSN 1350-9047, 08/2016, Volume 23, Issue 8, pp. 1347 - 1357
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 10/2019, Volume 125, pp. 128 - 132
Millions of people around the world are plagued by hearing loss. More than 50% of congenital or pre-lingual deafness is associated with genetic factors and has... 
Myosin XVa | Autosomal recessive | Congenital deafness | Target sequencing | MODERATE | INNER-EAR | CLINICAL-EVALUATION | STEREOCILIA | MOUSE | DEAFNESS DFNB3 | IMPAIRMENT | WHIRLIN | ELONGATION | OTORHINOLARYNGOLOGY | UNCONVENTIONAL MYOSIN | PEDIATRICS | Deafness | Genetic disorders | Genes | Myosin | Genetic aspects | Nucleotide sequencing | Muscle proteins | Hearing loss | DNA sequencing
Journal Article