Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren‐Larsson Syndrome patients

2021 ◽  
Author(s):  
Mohan Rajeshwari ◽  
Sellamuthu Karthi ◽  
Singh Reetu ◽  
Stephanie Efthymiou ◽  
Vykuntaraju K Gowda ◽  
...  
Keyword(s):  
Functional Domains ◽  
Clinical Phenotypes ◽  
Larsson Syndrome

Age dependent de-differentiation across functional domains

2012 ◽  
Vol 43 (01) ◽  
Author(s):  
C Roski ◽  
S Caspers ◽  
S Lux ◽  
S Eickhoff ◽  
K Zilles
Keyword(s):  
Functional Domains ◽  
Age Dependent

Dominant negative CaSR mutants: Biochemical function, inheritance and clinical phenotypes

2015 ◽  
Vol 122 (03) ◽  
Author(s):  
S Letz ◽  
M Gllaudo ◽  
M Quinkler ◽  
U Bogner ◽  
C Haag ◽  
...  
Keyword(s):  
Dominant Negative ◽  
Clinical Phenotypes ◽  
Biochemical Function

Author response for "Thrombomodulin functional domains support osteoblast differentiation and bone healing in diabetes in mice"

2020 ◽  
Author(s):  
Chung‐Hwan Chen ◽  
Chao‐Han Lai ◽  
Yi‐Kai Hong ◽  
Jui‐Ming Lu ◽  
Sung‐Yen Lin ◽  
...  
Keyword(s):  
Bone Healing ◽  
Osteoblast Differentiation ◽  
Author Response ◽  
Functional Domains ◽  
Diabetes In Mice

Vestibular Schwannoma Clinical Phenotypes Are Associated with Differential Methylation Patterns

2020 ◽  
Author(s):  
Avital Perry ◽  
Christopher S. Graffeo ◽  
Lucas P. Carlstrom ◽  
Amanda Munoz Casabella ◽  
Matthew L. Carlson ◽  
...  
Keyword(s):  
Vestibular Schwannoma ◽  
Differential Methylation ◽  
Clinical Phenotypes ◽  
Methylation Patterns

Frequency of common genetic forms of frontotemporal dementia in a Russian cohort of patients

2020 ◽  
pp. 30-32
Author(s):  
Ю.А. Шпилюкова ◽  
Е.Ю. Федотова ◽  
Н.Ю. Абрамычева ◽  
С.Н. Иллариошкин
Keyword(s):  
Frontotemporal Dementia ◽  
Clinical Phenotypes ◽  
Mapt Gene ◽  
First Time

Впервые в российской популяции на когорте пациентов с клиническим диагнозом ЛВД исследована частота встречаемости мутаций в наиболее частых генах, ассоциированных с данным заболеванием. Наибольшая часто мутирующими являются гены C9orf72 и GRN. Реже всего встречаются мутации в гене MAPT, что возможно связано с неравномерным представительством клинических фенотипов в нашей выборке. For the first time in the Russian cohort of FTD patients the frequency of mutations in the most common genes associated with this disease was studied. The most frequently mutating are the genes C9orf72 and GRN. Mutations in the MAPT gene are least likely to occur, which is probably due to the uneven representation of clinical phenotypes in our sample.

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