<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0211-6995</journal-id>
<journal-title><![CDATA[Nefrología (Madrid)]]></journal-title>
<abbrev-journal-title><![CDATA[Nefrología (Madr.)]]></abbrev-journal-title>
<issn>0211-6995</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Española de Nefrología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0211-69952017000300301</article-id>
<article-id pub-id-type="doi">10.1016/j.nefro.2016.11.024</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[CTNS molecular genetics profile in a Persian nephropathic cystinosis population]]></article-title>
<article-title xml:lang="es"><![CDATA[Perfil genético molecular del gen CTNS en una población persa con cistinosis nefropática]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ghazi]]></surname>
<given-names><![CDATA[Farideh]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hosseini]]></surname>
<given-names><![CDATA[Rozita]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Akouchekian]]></surname>
<given-names><![CDATA[Mansoureh]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Teimourian]]></surname>
<given-names><![CDATA[Shahram]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ataei Kachoei]]></surname>
<given-names><![CDATA[Zohreh]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Otukesh]]></surname>
<given-names><![CDATA[Hassan]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gahl]]></surname>
<given-names><![CDATA[William A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Behnam]]></surname>
<given-names><![CDATA[Babak]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A3 "/>
<xref ref-type="aff" rid="Af4"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Iran University of Medical Sciences (IUMS) Faculty of Medicine Department of Medical Genetics and Molecular Biology]]></institution>
<addr-line><![CDATA[Tehran ]]></addr-line>
<country>Iran</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Ali Asghar Children Hospital  ]]></institution>
<addr-line><![CDATA[Tehran ]]></addr-line>
<country>Iran</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Iran University of Medical Sciences (IUMS) Faculty of Medicine Department of Pediatrics]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af3">
<institution><![CDATA[,National Institutes of Health (NIH) National Human Genome Research Institute Section on Human Biochemical Genetics, Medical Genetics Branch]]></institution>
<addr-line><![CDATA[Bethesda MD]]></addr-line>
<country>USA</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,National Institutes of Health (NIH) NIH Undiagnosed Diseases Program Common Fund, Office of the Director]]></institution>
<addr-line><![CDATA[Bethesda MD]]></addr-line>
<country>USA</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2017</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2017</year>
</pub-date>
<volume>37</volume>
<numero>3</numero>
<fpage>301</fpage>
<lpage>310</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S0211-69952017000300301&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S0211-69952017000300301&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S0211-69952017000300301&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1-17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.  Methods: Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysis, which involved polymerase chain reaction (PCR) amplification to determine the presence or absence of the 57-kb founder deletion in CTNS, followed by direct sequencing of the coding exons of CTNS.  Results: The common 57-kb deletion was not observed in any of the 28 Iranian patients. In 14 of 28 patients (50%), mutations were observed in exons 6 and 7. No mutation was detected in exon 5, and only one (3.6%) patient with cystinosis showed a previously reported 4-bp deletion in exon 3 of CTNS. Four patients (14.3%) had a previously reported mutation (c.969C &gt; A; p.N323K) in exon 11, and five (18%) had novel homozygous deletions in exon 6 leading to premature truncation of the protein. These deletions included c.323delA; p.Q108RfsX10 in three individuals and c.257-258delCT; p.S86FfsX37 in two cases. Other frame-shift mutations were all novel homozygous single base pair deletion/insertions including one in CTNSexon 9 (c.661insT; p.V221CfsX6), and four (14.3%) in exon 4, i.e., c.92insG; p.V31GfsX28 in two and c.120delC; p.T40TfsX10 in two. In total, we identified eight previously reported mutations and eight novel mutations in our patients. The only detected splice site mutation (IVS3-2A &gt; C) was associated with the insertion mutation in the exon 9.  Conclusion: This study, the first molecular genetic analysis of non-ethnic-specific Iranian nephropathic cystinosis patients, may provide guidance for molecular diagnostics of cystinosis in Iran.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Objetivo: En este informe, documentamos las mutaciones del gen CTNS de 28 pacientes iraníes con cistinosis nefropática y una edad de 1-17 años. En un principio, todos presentaron retraso del desarrollo, poliuria y polidipsia.  Métodos: En primer lugar, un nefrólogo pediátrico diagnosticó la cistinosis y luego los pacientes fueron trasladados a la clínica genética de la Universidad de Ciencias Médicas de Irán para consulta y análisis molecular, que incluía la multiplicación por reacción en cadena de la polimerasa (PCR), para determinar la existencia o ausencia de la deleción del fundador del 57 kb en el CTNS, seguida por la secuenciación directa de los exones de codificación del CTNS.  Resultados: La deleción frecuente del 57 kb no se observó en ninguno de los 28 pacientes iraníes. En 14 de los 28 pacientes (50%) se observaron mutaciones en los exones 6 y 7. No se detectó ninguna mutación en el exón 5 y solo un paciente (3,6%) con cistinosis mostró una deleción del 4 pb, anteriormente comunicada, en el exón 3 del CTNS. De ellos, 4 pacientes (14,3%) tenían una mutación anteriormente comunicada (c.969C &gt; A; p.N323K) en el exón 11 y 5 (18%) tenían nuevas deleciones homocigóticas en el exón 6 que produjeron el vaciamiento prematuro de la proteína. Entre estas deleciones se puede citar c.323delA; p.Q108RfsX10 en 3 personas y c.257-258delCT; p.S86FfsX37 en 2 casos. Otras mutaciones con desplazamiento del marco de lectura fueron todas nuevas deleciones/inserciones de un par de bases únicas homocigóticas, incluyendo una en el exón 9 del CTNS (c.661insT; p.V221CfsX6) y 4 (14,3%) en el exón 4, es decir, c.92insG; p.V31GfsX28 en 2 y c.120delC; p.T40TfsX10 en 2. En total, en nuestros pacientes se identificaron 8 mutaciones anteriormente comunicadas y 8 mutaciones nuevas. La única mutación del sitio de empalme detectada (IVS3-2A &gt; C) estaba asociada con la mutación de inserción en el exón 9.  Conclusión: Este estudio, el primer análisis genético molecular de pacientes iraníes con cistinosis nefropática de carácter no específicamente étnico, puede servir como guía para el diagnóstico molecular de la cistinosis en Irán.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Cystinosis]]></kwd>
<kwd lng="en"><![CDATA[CTNS]]></kwd>
<kwd lng="en"><![CDATA[Novel]]></kwd>
<kwd lng="en"><![CDATA[Mutation]]></kwd>
<kwd lng="en"><![CDATA[Iran]]></kwd>
<kwd lng="es"><![CDATA[cistinosis]]></kwd>
<kwd lng="es"><![CDATA[CTNS]]></kwd>
<kwd lng="es"><![CDATA[Nuevo]]></kwd>
<kwd lng="es"><![CDATA[Mutación]]></kwd>
<kwd lng="es"><![CDATA[Irán]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Linkage of the gene for cystinosis to markers on the short arm of chromosome-17]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[McDowell]]></surname>
<given-names><![CDATA[GA]]></given-names>
</name>
<name>
<surname><![CDATA[William]]></surname>
<given-names><![CDATA[GA]]></given-names>
</name>
<name>
<surname><![CDATA[Stephenson]]></surname>
<given-names><![CDATA[LA]]></given-names>
</name>
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Weissenbach]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Polymeropoulos]]></surname>
<given-names><![CDATA[MH]]></given-names>
</name>
</person-group>
<source><![CDATA[Nat Genet]]></source>
<year>1995</year>
<volume>10</volume>
<page-range>246-8</page-range></nlm-citation>
</ref>
<ref id="B2">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Treatment of corneal cystine crystal accumulation in patients with cystinosis]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Shams]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Livingstone]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Oladiwura]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Ramaesh]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<source><![CDATA[Clin Ophthalmol]]></source>
<year>2014</year>
<volume>8</volume>
<page-range>2077-84</page-range></nlm-citation>
</ref>
<ref id="B3">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Cystinosis]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gahl]]></surname>
<given-names><![CDATA[WA]]></given-names>
</name>
<name>
<surname><![CDATA[Thoene]]></surname>
<given-names><![CDATA[JG]]></given-names>
</name>
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
</person-group>
<source><![CDATA[N Engl J Med]]></source>
<year>2002</year>
<volume>347</volume>
<page-range>111-21</page-range></nlm-citation>
</ref>
<ref id="B4">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[First NIH/Office of rare diseases conference on cystinosis: past, present, and future]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kleta]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Kaskel]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Dohil]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Goodyer]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Guay-Woodford]]></surname>
<given-names><![CDATA[LM]]></given-names>
</name>
<name>
<surname><![CDATA[Harms]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<source><![CDATA[Pediatr Nephrol]]></source>
<year>2005</year>
<volume>20</volume>
<page-range>452-4</page-range></nlm-citation>
</ref>
<ref id="B5">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[New aspects of the pathogenesis of cystinosis]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kalatzis]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Antignac]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<source><![CDATA[Pediatr Nephrol]]></source>
<year>2003</year>
<volume>18</volume>
<page-range>207-15</page-range></nlm-citation>
</ref>
<ref id="B6">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Role in therapeutic cystine removal?]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pisoni]]></surname>
<given-names><![CDATA[RL]]></given-names>
</name>
<name>
<surname><![CDATA[Thoene]]></surname>
<given-names><![CDATA[JG]]></given-names>
</name>
<name>
<surname><![CDATA[Christensen]]></surname>
<given-names><![CDATA[HN]]></given-names>
</name>
</person-group>
<source><![CDATA[J Biol Chem]]></source>
<year>1985</year>
<volume>260</volume>
<page-range>4791-8</page-range></nlm-citation>
</ref>
<ref id="B7">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Mutational spectrum of the CTNS gene in Italy]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Mason]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Pepe]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Dall'Amico]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Tartaglia]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Casciani]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Greco]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>2003</year>
<volume>11</volume>
<page-range>503-8</page-range></nlm-citation>
</ref>
<ref id="B8">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Jaradat]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Al-Rababah]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Hazza]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Akl]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Saca]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Al-Younis]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<source><![CDATA[Nefrologia]]></source>
<year>2015</year>
<volume>35</volume>
<page-range>547-53</page-range></nlm-citation>
</ref>
<ref id="B9">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Genetic basis of cystinosis in Tunisian patients: identification of novel mutation in CTNS gene]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chkioua]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Khedhiri]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Grissa]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Aloui]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Turkia]]></surname>
<given-names><![CDATA[HB]]></given-names>
</name>
<name>
<surname><![CDATA[Ferchichi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<source><![CDATA[Meta Gene]]></source>
<year>2015</year>
<volume>25</volume>
<page-range>144-9</page-range></nlm-citation>
</ref>
<ref id="B10">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Town]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Jean]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Cherqui]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Attard]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Forestier]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Whitmore]]></surname>
<given-names><![CDATA[SA]]></given-names>
</name>
</person-group>
<source><![CDATA[Nat Genet]]></source>
<year>1998</year>
<volume>18</volume>
<page-range>319-24</page-range></nlm-citation>
</ref>
<ref id="B11">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[CTNS mutations in an American-based population of cystinosis patients]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Shotelersuk]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Larson]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Anikster]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[McDowell]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Lemons]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Bernardini]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Hum Genet]]></source>
<year>1998</year>
<volume>63</volume>
<page-range>1352-62</page-range></nlm-citation>
</ref>
<ref id="B12">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Genetic basis of cystinosis in Turkish patients: a single-center experience]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Topaloglu]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Vilboux]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Coskun]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Ozaltin]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Tinloy]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Gunay-Aygun]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<source><![CDATA[Pediatr Nephrol]]></source>
<year>2012</year>
<volume>27</volume>
<page-range>115</page-range></nlm-citation>
</ref>
<ref id="B13">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the southwestern Iran]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Shahkarami]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Galehdari]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Ahmadzadeh]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Babaahmadi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Pedram]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<source><![CDATA[Nefrologia]]></source>
<year>2013</year>
<volume>33</volume>
<page-range>308-15</page-range></nlm-citation>
</ref>
<ref id="B14">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Alcántara-Ortigoza]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Belmont-Martínez]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Vela-Amieva]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[González-Del Angel]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<source><![CDATA[Genet Test]]></source>
<year>2008</year>
<volume>12</volume>
<page-range>409-14</page-range></nlm-citation>
</ref>
<ref id="B15">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Phornphutkul]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Anikster]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Huizing]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Braun]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Brodie]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Chou]]></surname>
<given-names><![CDATA[JY]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2001</year>
<volume>69</volume>
<page-range>712-21</page-range></nlm-citation>
</ref>
<ref id="B16">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Two novel CTNS mutations in cystinosis patients in Thailand]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yeetong]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Tongkobpetch]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kingwatanakul]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Deekajorndech]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Bernardini]]></surname>
<given-names><![CDATA[IM]]></given-names>
</name>
<name>
<surname><![CDATA[Suphapeetiporn]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<source><![CDATA[Gene]]></source>
<year>2012</year>
<volume>15</volume>
<page-range>323-5</page-range></nlm-citation>
</ref>
<ref id="B17">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[CTNS mutations in African American patients with cystinosis]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kleta]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Anikster]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Lucero]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Shotelersuk]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Huizing]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Bernardini]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<source><![CDATA[Mol Genet Metab]]></source>
<year>2001</year>
<volume>74</volume>
<page-range>332-7</page-range></nlm-citation>
</ref>
<ref id="B18">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Anikster]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Lucero]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Guo]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Huizing]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Shotelersuk]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Bernardini]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<source><![CDATA[Pediatr Res]]></source>
<year>2000</year>
<volume>47</volume>
<page-range>17-23</page-range></nlm-citation>
</ref>
<ref id="B19">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Analysis of the CTNS gene in 32 cystinosis patients from Spain]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Macías-Vidal]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Rodés]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Hernández-Pérez]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Vilaseca]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Coll]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
</person-group>
<source><![CDATA[Clin Genet]]></source>
<year>2009</year>
<volume>76</volume>
<page-range>486-9</page-range></nlm-citation>
</ref>
<ref id="B20">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rupar]]></surname>
<given-names><![CDATA[CA]]></given-names>
</name>
<name>
<surname><![CDATA[Matsell]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Surry]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Siu]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
</person-group>
<source><![CDATA[J Med Genet]]></source>
<year>2001</year>
<volume>38</volume>
<page-range>615-6</page-range></nlm-citation>
</ref>
<ref id="B21">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Anikster]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Lucero]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Touchman]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
<name>
<surname><![CDATA[Huizing]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[McDowell]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Shotelersuk]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
</person-group>
<source><![CDATA[Mol Genet Metab]]></source>
<year>1999</year>
<volume>66</volume>
<page-range>111-6</page-range></nlm-citation>
</ref>
<ref id="B22">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Characterization of CTNS mutations in Arab patients with cystinosis]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Aldahmesh]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Humeidan]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Almojalli]]></surname>
<given-names><![CDATA[HA]]></given-names>
</name>
<name>
<surname><![CDATA[Khan]]></surname>
<given-names><![CDATA[AO]]></given-names>
</name>
<name>
<surname><![CDATA[Rajab]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[AL-Abbad]]></surname>
<given-names><![CDATA[AA]]></given-names>
</name>
</person-group>
<source><![CDATA[Ophthal Genet]]></source>
<year>2009</year>
<volume>30</volume>
<page-range>185-9</page-range></nlm-citation>
</ref>
<ref id="B23">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Mutational spectrum of the CTNS gene in Egyptian patients with nephropathic cystinosis]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Soliman]]></surname>
<given-names><![CDATA[NA]]></given-names>
</name>
<name>
<surname><![CDATA[Elmonem]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Heuvel]]></surname>
<given-names><![CDATA[L van den]]></given-names>
</name>
<name>
<surname><![CDATA[Abdel Hamid]]></surname>
<given-names><![CDATA[RH]]></given-names>
</name>
<name>
<surname><![CDATA[Gamal]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Bongaers]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<source><![CDATA[JIMD Rep]]></source>
<year>2014</year>
<volume>14</volume>
<page-range>87-97</page-range></nlm-citation>
</ref>
<ref id="B24">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[A simple salting out procedure for extracting DNA from human nucleated cells]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Miller]]></surname>
<given-names><![CDATA[SA]]></given-names>
</name>
<name>
<surname><![CDATA[Dykes]]></surname>
<given-names><![CDATA[DD]]></given-names>
</name>
<name>
<surname><![CDATA[Polesky]]></surname>
<given-names><![CDATA[HF]]></given-names>
</name>
</person-group>
<source><![CDATA[Nucleic Acids Res]]></source>
<year>1988</year>
<volume>16</volume>
<page-range>1215</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
