[Rook Review] A Chinese Family in the Eyes of an American Professor

2018 ◽  
Vol 112 ◽  
pp. 205-209
Author(s):  
Wen Lu Li
Keyword(s):  
Chinese Family

420 A novel SCN5A mutation (R878C) associated with sick sinus syndrome in one Chinese family

2006 ◽  
Vol 5 (1) ◽  
pp. 98-98
Author(s):  
Y ZHANG ◽  
A MA ◽  
H WAN ◽  
C HUANG ◽  
X ZHOU ◽  
...  
Keyword(s):  
Sick Sinus Syndrome ◽  
Chinese Family ◽  
Scn5a Mutation

: Chinese Family and Society . Olga Lang.

1946 ◽  
Vol 15 (17) ◽  
pp. 271-271
Author(s):  
Nym Wales
Keyword(s):  
Chinese Family

The Parenting in Child's Puberty Time : Two Case Studies in China

2020 ◽  
Author(s):  
Yi Huang
Keyword(s):  
Family Education ◽  
Early Adolescent ◽  
Chinese Family ◽  
Chinese Parents ◽  
Children And Parents ◽  
Chinese Parenting ◽  
Parenting Expectations ◽  
Unique Style ◽  
Education Culture ◽  
Do So

Puberty is a challenging time for both children and parents. Many researches about parenting in puberty time have been done in the western culture context. Due to Chinese parents' special philosophy of parenting, it is valuable and interesting to probe the this parenting-related issue in Chinese context. Unfortunately, there was few study to do so. As the supplement for previous research, this study aimed to discuss Chinese parenting behaviors during children's early adolescent time by introducing two interviews with a parent of early adolescent boy and a parent of a girl in early adolescence respectively. It's found that the Chinese parenting style can be explained from 3 aspects: aims of parenting, basic idea of parenting, expectations to kid. No matter for boy or girl, the parenting involves supervision and understanding and love, which is a kind of unique style shared in Chinese family education culture. Besides, parent gives more expectation about parent-child communication to girl.

A Chinese family with hemophilia B Leyden due to T→A transition at position +6 of the FIX gene

2006 ◽  
Vol 81 (4) ◽  
pp. 300-301
Author(s):  
Vivian Chan ◽  
Shau-Yin Ha ◽  
Patrick Au ◽  
Clarence Lam ◽  
Tai-Kwong Chan
Keyword(s):  
Hemophilia B ◽  
Chinese Family

scholarly journals A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 411
Author(s):  
María Lachgar ◽  
Matías Morín ◽  
Manuela Villamar ◽  
Ignacio del Castillo ◽  
Miguel Ángel Moreno-Pelayo
Keyword(s):  
Hearing Loss ◽  
Stop Codon ◽  
Coiled Coil ◽  
Premature Stop Codon ◽  
Scaffolding Protein ◽  
Common Mechanism ◽  
Chinese Family ◽  
Truncating Mutation ◽  
Spanish Family ◽  
Sensory Defect

Nonsyndromic hereditary hearing loss is a common sensory defect in humans that is clinically and genetically highly heterogeneous. So far, 122 genes have been associated with this disorder and 50 of them have been linked to autosomal dominant (DFNA) forms like DFNA68, a rare subtype of hearing impairment caused by disruption of a stereociliary scaffolding protein (HOMER2) that is essential for normal hearing in humans and mice. In this study, we report a novel HOMER2 variant (c.832_836delCCTCA) identified in a Spanish family by using a custom NGS targeted gene panel (OTO-NGS-v2). This frameshift mutation produces a premature stop codon that may lead in the absence of NMD to a shorter variant (p.Pro278Alafs*10) that truncates HOMER2 at the CDC42 binding domain (CBD) of the coiled-coil structure, a region that is essential for protein multimerization and HOMER2-CDC42 interaction. c.832_836delCCTCA mutation is placed close to the previously identified c.840_840dup mutation found in a Chinese family that truncates the protein (p.Met281Hisfs*9) at the CBD. Functional assessment of the Chinese mutant revealed decreased protein stability, reduced ability to multimerize, and altered distribution pattern in transfected cells when compared with wild-type HOMER2. Interestingly, the Spanish and Chinese frameshift mutations might exert a similar effect at the protein level, leading to truncated mutants with the same Ct aberrant protein tail, thus suggesting that they can share a common mechanism of pathogenesis. Indeed, age-matched patients in both families display quite similar hearing loss phenotypes consisting of early-onset, moderate-to-profound progressive hearing loss. In summary, we have identified the third variant in HOMER2, which is the first one identified in the Spanish population, thus contributing to expanding the mutational spectrum of this gene in other populations, and also to clarifying the genotype–phenotype correlations of DFNA68 hearing loss.

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