A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

10.1242/dmm.026476

محفوظ في:

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Seco, C.Z, Castells-Noba A., Joo, S.-H, Schraders, M., Foo, J.N., Van Der Voet, M., Velan, S.S, Nijhof, B., Oostrik, J., De Vrieze, E., Katana, R., Mansoor, A., Huynen, M., Szklarczyk, R., Oti, M., Tranebjarg, L., Van Wijk, E., Scheffer-De Gooyert, J.M., Siddique, S., Baets, J., De Jonghe, P., Kazmi, S.A.R., Sadananthan, S.A, Van De Warrenburg, B.P., Khor, C.C, Göpfert, M.C., Qamar, R., Schenck, A., Kremer, H., Siddiqi, S.
مؤلفون آخرون:	MEDICINE
التنسيق:	مقال
منشور في:	2020
الموضوعات:	aspartate aminotransferase creatine kinase fitm2 protein lactate dehydrogenase protein unclassified drug Drosophila protein fat droplet FIT2 protein, human membrane protein adolescent adult Article child clinical article clinical examination clinical observation Drosophila melanogaster dystonia fat content female fruit fly model gene mutation genetic counseling genetic variation hearing impairment homozygosity human ichthyosis lipid storage loss of function mutation male nonsense mutation Pakistani perception deafness phenotype priority journal protein expression pure tone audiometry sensory neuropathy tympanometry whole exome sequencing animal blood complication deafblindness disease model gene expression regulation gene silencing genetics HEK293 cell line homozygote intellectual impairment liver locomotion metabolism motor activity mutation nucleotide sequence obesity optic nerve atrophy pathology pathophysiology pedigree sensory nerve cell stop codon young adult Adiposity Animals Audiometry, Pure-Tone Base Sequence Child Codon, Nonsense Deaf-Blind Disorders Disease Models, Animal Drosophila Proteins Dystonia Female Gene Expression Regulation Gene Knockdown Techniques Hearing Loss HEK293 Cells Homozygote Humans Ichthyosis Intellectual Disability Lipid Droplets Liver Locomotion Male Membrane Proteins Motor Activity Mutation Optic Atrophy Pedigree Sensory Receptor Cells Whole Exome Sequencing Young Adult
الوصول للمادة أونلاين:	https://scholarbank.nus.edu.sg/handle/10635/173796
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!

الوصف
الملخص:	10.1242/dmm.026476