विवरण
Laura Southgate
47 वर्षों
en
मेरे बारे में
I am a Lecturer in Genetics at St George's, University of London. I am interested in identifying genes that cause rare diseases
संपर्क करें
शोधकर्ता आँकड़े
शिक्षा
PhD Genetics. University of London (King's College London), UK. 2003-2009
BSc Biological Sciences (Genetics). University of Leicester, UK. 1996-1999
अनुभव
I have over 20 years experience of working to identify genes for inherited human disorders. I am also interested in examining how identified mutations affect the function of the proteins produced by these faulty genes and how this might cause disease.
के इच्छुक
यह शोधकर्ता अभी तक किसी भी मैप में नहीं है
प्रश्न उत्तर दिए
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इस हेल्थकेयर प्रोफेशनल ने अभी तक किसी भी सवाल का जवाब नहीं दिया है
प्रकाशन
- Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies - adams-oliver-syndrome - http://www.cell.com/ajhg/fulltext/S0002-9297(11)00154-6
- DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies - adams-oliver-syndrome - http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22795/abstract
- Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies - adams-oliver-syndrome - http://circgenetics.ahajournals.org/content/8/4/572.long
- Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome - adams-oliver-syndrome - http://www.cell.com/ajhg/fulltext/S0002-9297(15)00291-8
- Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects - pulmonary-hypertension - http://onlinelibrary.wiley.com/doi/10.1002/humu.22904/full
- Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort - adams-oliver-syndrome - https://www.ncbi.nlm.nih.gov/pubmed/29924900
- Current opinion in the molecular genetics of Adams-Oliver syndrome - adams-oliver-syndrome - https://doi.org/10.1080/21678707.2019.1559049
- Molecular genetic framework underlying pulmonary arterial hypertension - pulmonary-hypertension - https://www.ncbi.nlm.nih.gov/pubmed/31406341
- Identification of rare sequence variation underlying heritable pulmonary arterial hypertension - pulmonary-hypertension - https://www.ncbi.nlm.nih.gov/pubmed/29650961/