Dental enamel formation and implications for oral health and disease

RS Lacruz, S Habelitz, JT Wright… - Physiological …, 2017 - journals.physiology.org
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 …

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 …

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 …

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 …

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 …

[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 …

[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 …

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 …

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 …

[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 …