[HTML][HTML] Vertebrate pseudogenes
AJ Mighell, NR Smith, PA Robinson, AF Markham - FEBS letters, 2000 - Elsevier
Pseudogenes are commonly encountered during investigation of the genomes of a wide
range of life forms. This review concentrates on vertebrate, and in particular mammalian …
range of life forms. This review concentrates on vertebrate, and in particular mammalian …
[HTML][HTML] Amelogenesis imperfecta; genes, proteins, and pathways
Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions
characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft …
characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft …
A systematic review of medical interventions for oral submucous fibrosis and future research opportunities
AR Kerr, S Warnakulasuriya, AJ Mighell… - Oral …, 2011 - Wiley Online Library
Oral Diseases (2011) 17 (Suppl. 1), 42–57 Oral submucous fibrosis (OSF) is a chronic,
insidious disease caused by areca nut use, and is associated with both significant morbidity …
insidious disease caused by areca nut use, and is associated with both significant morbidity …
[HTML][HTML] Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene …
F Ponchel, C Toomes, K Bransfield, FT Leong… - BMC …, 2003 - Springer
Background Real-time PCR is increasingly being adopted for RNA quantification and
genetic analysis. At present the most popular real-time PCR assay is based on the …
genetic analysis. At present the most popular real-time PCR assay is based on the …
[PDF][PDF] Identification of microcephalin, a protein implicated in determining the size of the human brain
AP Jackson, H Eastwood, SM Bell, J Adu… - The American Journal of …, 2002 - cell.com
Primary microcephaly (MIM 251200) is an autosomal recessive neurodevelopmental
condition in which there is a global reduction in cerebral cortex volume, to a size …
condition in which there is a global reduction in cerebral cortex volume, to a size …
[PDF][PDF] Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta
DA Parry, AJ Mighell, W El-Sayed, RC Shore… - The american journal of …, 2009 - cell.com
The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis
imperfecta (AI) was first reported by Jalili and Smith in 1988 in a family subsequently linked …
imperfecta (AI) was first reported by Jalili and Smith in 1988 in a family subsequently linked …
[PDF][PDF] Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta
W El-Sayed, DA Parry, RC Shore, M Ahmed… - The American Journal of …, 2009 - cell.com
Healthy dental enamel is the hardest and most highly mineralized human tissue. Though
acellular, nonvital, and without capacity for turnover or repair, it can nevertheless last a …
acellular, nonvital, and without capacity for turnover or repair, it can nevertheless last a …
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta
JA Poulter, G Murillo, SJ Brookes… - Human molecular …, 2014 - academic.oup.com
Amelogenesis imperfecta (AI) describes a heterogeneous group of inherited dental enamel
defects reflecting failure of normal amelogenesis. Ameloblastin (AMBN) is the second most …
defects reflecting failure of normal amelogenesis. Ameloblastin (AMBN) is the second most …
[HTML][HTML] Alu sequences
AJ Mighell, AF Markham, PA Robinson - FEBS letters, 1997 - Elsevier
Alu sequences are frequently encountered during study of human genomic nucleic acid and
form a major component of repetitive DNA. This review describes the origin of Alu …
form a major component of repetitive DNA. This review describes the origin of Alu …
[PDF][PDF] Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6
I Ratbi, KD Falkenberg, M Sommen… - The American Journal of …, 2015 - cell.com
Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing
loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset …
loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset …