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Toplam kayıt 66, listelenen: 1-10
IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
(Wiley, 2013)
IL-12R1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12R1 is a receptor chain of ...
Genes For Spinocerebellar Ataxia With Blindness And Deafness (Scabd/Scar3, Mim# 271250 And Scabd2)
(Nature Publishing Group, 2016)
Ataxia is a symptom that is often associated with syndromic inherited diseases. We previously reported the linkage of a novel syndrome, ataxia with blindness and deafness (SCAR3/SCABD, OMIM# 271250), to chromosome 6p21-p23 ...
Loss-Of-Function Mutations in Elmo2 Cause Intraosseous Vascular Malformation by Impeding Rac1 Signaling
(Cell Press, 2016)
Vascular malformations are non-neoplastic expansions of blood vessels that arise due to errors during angiogenesis. They are a heterogeneous group of sporadic or inherited vascular disorders characterized by localized ...
Exome Sequencing And Cis-Regulatory Mapping Identify Mutations In Mak, A Gene Encoding A Regulator Of Ciliary Length, As A Cause Of Retinitis Pigmentosa
(Cell Press, 2011)
A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the context of a genetically heterogeneous disease, retinitis ...
Craniosynostosis And Multiple Skeletal Anomalies In Humans And Zebrafish Result From A Defect In The Localized Degradation Of Retinoic Acid
(Cell Press, 2011)
Excess exogenous retinoic acid (RA) has been well documented to have teratogenic effects in the limb and craniofacial skeleton. Malformations that have been observed in this context include craniosynostosis, a common ...
Functional Analysis Of A Duplication (P.E63_D69Dup) In The Switch Ii Region Of Hras: New Aspects Of The Molecular Pathogenesis Underlying Costello Syndrome
(Oxford Univ Press, 2013)
Costello syndrome is a congenital disorder comprising a characteristic face, severe feeding difficulties, skeletal, cardiac and skin abnormalities, intellectual disability and predisposition to malignancies. It is caused ...
Guanidinoacetate Methyltransferase (Gamt) Deficiency: Outcomes In 48 Individuals And Recommendations For Diagnosis, Treatment And Monitoring
(Academic Press Inc Elsevier Science, 2014)
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as ...
Haploinsufficiency Of A Spliceosomal Gtpase Encoded By Eftud2 Causes Mandibulofacial Dysostosis With Microcephaly
(Cell Press, 2012)
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including ...
Disruption of the Podosome Adaptor Protein Tks4 (Sh3Pxd2B) Causes The Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome
(Cell Press, 2010)
Frank-Ter Haar syndrome (FTHS), also known as Ter Haar syndrome, is an autosomal-recessive disorder characterized by skeletal, cardiovascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, ...
Disruption of Ptpro Causes Childhood-Onset Nephrotic Syndrome
(Cell Press, 2011)
Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it typically results in end-stage kidney disease, the steroid-resistant ...