Dental enamel formation and implications for oral health and disease
Dental enamel is the hardest and most mineralized tissue in extinct and extant vertebrate
species and provides maximum durability that allows teeth to function as weapons and/or …
species and provides maximum durability that allows teeth to function as weapons and/or …
Molecular genetics of hearing loss
C Petit, J Levilliers, JP Hardelin - Annual review of genetics, 2001 - annualreviews.org
▪ Abstract Hereditary isolated hearing loss is genetically highly heterogeneous. Over 100
genes are predicted to cause this disorder in humans. Sixty loci have been reported and 24 …
genes are predicted to cause this disorder in humans. Sixty loci have been reported and 24 …
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome
LA Everett, IA Belyantseva… - Human molecular …, 2001 - academic.oup.com
Following the positional cloning of PDS, the gene mutated in the deafness/goitre disorder
Pendred syndrome (PS), numerous studies have focused on defining the role of PDS in …
Pendred syndrome (PS), numerous studies have focused on defining the role of PDS in …
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
HJ Park, S Shaukat, XZ Liu, SH Hahn, S Naz… - Journal of medical …, 2003 - jmg.bmj.com
Recessive mutations of SLC26A4 (PDS) are a common cause of Pendred syndrome and
non-syndromic deafness in western populations. Although south and east Asia contain …
non-syndromic deafness in western populations. Although south and east Asia contain …
The sodium-iodide symporter NIS and pendrin in iodide homeostasis of the thyroid
A Bizhanova, P Kopp - Endocrinology, 2009 - academic.oup.com
Thyroid hormones are essential for normal development and metabolism. Thyroid hormone
biosynthesis requires iodide uptake into the thyrocytes and efflux into the follicular lumen …
biosynthesis requires iodide uptake into the thyrocytes and efflux into the follicular lumen …
[HTML][HTML] Werner and Ingbar's the thyroid: a fundamental and clinical text
P Kopp, DS Cooper, LE Braverman - 2020 - doctorlib.info
Thyroid hormone biosynthesis, storage, and secretion require a series of highly regulated
steps. Iodide, the rate-limiting substrate for thyroid hormone synthesis, is actively transported …
steps. Iodide, the rate-limiting substrate for thyroid hormone synthesis, is actively transported …
[HTML][HTML] Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular …
K Tsukamoto, H Suzuki, D Harada, A Namba… - European journal of …, 2003 - nature.com
Molecular diagnosis makes a substantial contribution to precise diagnosis, subclassification,
prognosis, and selection of therapy. Mutations in the PDS (SLC26A4) gene are known to be …
prognosis, and selection of therapy. Mutations in the PDS (SLC26A4) gene are known to be …
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations
C Campbell, RA Cucci, S Prasad, GE Green… - Human …, 2001 - Wiley Online Library
Abstract Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two
autosomal recessive disorders that share hearing loss as a common feature. The hearing …
autosomal recessive disorders that share hearing loss as a common feature. The hearing …
Non‐syndromic, autosomal‐recessive deafness
MB Petersen, PJ Willems - Clinical genetics, 2006 - Wiley Online Library
Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …
[HTML][HTML] Structure and function of an Arabidopsis thaliana sulfate transporter
L Wang, K Chen, M Zhou - Nature communications, 2021 - nature.com
Plant sulfate transporters (SULTR) mediate absorption and distribution of sulfate (SO42−)
and are essential for plant growth; however, our understanding of their structures and …
and are essential for plant growth; however, our understanding of their structures and …