Identification and characterization of long-range SOX9 enhancers in limb development

The transcription factor Sox9 is a master regulator of skeletogenesis. Heterozygous mutations of human SOX9 result in Campomelic Dysplasia (CD), in which affected individuals display distinct abnormalities in limbs and other skeletal assemblies. Recently, chromosomal translocations and deletions at >1Mb from SOX9 have been detected in some CD patients, suggesting the requirement of long‐range regulatory elements in mediating both spatiotemporal and dosage of Sox9 during limb development. To this end, we exploited several published ChIP‐Seq data, and identified nine, evolutionarily conserved, putative limb enhancers of SOX9, namely E1Sox9 to E9Sox9. Transgenic mouse embryos carrying E1Sox9‐driven LacZ reporter showed discrete transgene expression at the pre‐scapular domain where endogenous Sox9 is also expressed. Bioinformatic analyses on our candidate enhancers result in the identification of several signaling effector binding motifs, and indeed, we revealed that BMP‐Smad and Shh‐Gli pathways are possible upstream regulatory networks that govern the spatiotemporal and dosage of limb Sox9 expression via our predicted enhancers, respectively. Our results unveil the underlying molecular control in governing the complex patterning of Sox9 expression in the developing limb, and provide new molecular insight to the etiology of CD syndrome.postprin

A home-based dyadic music-with-movement intervention for people with dementia and caregivers : a hybrid type 2 cluster-randomized effectiveness-implementation design

202309 bcvcVersion of RecordNot mentionPublishe

Identification and characterization of long-range SOX9 enhancers in limb development

Conference Theme: From Embryology to Disease MechanismsSymposium in Honor of Patrick Tam FRS "60 Years & Still Gastrulating

The roles of Sox9 and its regulatory elements in campomelic dysplasia

An intensive six-week laboratory and lecture course for advanced graduate students, postdoctoral fellows, and more senior researchers who seek a broad and balanced view of the modern issues of developmental biology

The effects of involvement in training and volunteering with families of people with dementia on the knowledge and attitudes of volunteers towards dementia

202212 bckwVersion of RecordPublishe

Identification and characterization of long-range SOX9 enhancers in limb development

Conference Theme: From Embryology to Disease MechanismsSymposium in Honor of Patrick Tam FRS "60 Years & Still Gastrulating

Identification and characterization of long-range SOX9 enhancers in limb development

Poster Presentation - Theme 1: Genetics & Development, Translational & Regenerative Medicine: no. 1.3

Will private general practitioners alter their knowledge, attitude and practice towards counselling and performing cervical smears for their patients?

Objective: To investigate if the knowledge, attitude and practice (KAP) on cervical cancer screening of private general practitioners (GPs) can be modified by education. Design: A controlled cross-over trial of continuing medical education (CME). Subjects: 116 volunteer GPs in private practice who responded to a CME invitation were assigned to study (pap smear workshop, 60) and control (women's health workshop, 56) groups. Sixty-one were randomised while 55 were allocated by date of availability, before knowing which topic occurred on which dates. Main outcome measures: KAP results from self-administrated questionnaires before and 4 months after the workshop. Results: Ninety-four (81% of 116) attended the workshops (46 intervention and 48 controls). Among the 78 doctors (83% of 94) who completed both pre- and post-test questionnaires, while attitude was unchanged, knowledge (in 3 out of 8 items) and behaviour (self-reported Pap smear performing frequency and opportunistic advice for screening) were significantly improved only in the study group. Conclusion: Private GPs acquired more knowledge and reported positive changes in behaviour after an interactive CME workshop. More research is needed in how to maximise the screening capabilities of private GPs and thereby increase the screening rate for cervical cancer in Hong Kong.link_to_subscribed_fulltex