D40/KNL1/CASC5 and autosomal recessive primary microcephaly
ABSTRACT
Autosomal recessive primary microcephaly (MCPH) is a very rare neuro‐developmental disease with brain size reduction. More than a dozen loci encoding proteins of diverse function have been shown to be responsible for MCPH1‐13. Mutations in the D40/KNL1/CASC5 gene, which was initially characterized as a gene involved in chromosomal translocation in leukemia and as a member of the cancer/testis gene family, was later found to encode a kinetochore protein essential for mitotic cell division and to cause MCPH4. Although our previous studies showed that this gene is required for cell growth and division in vitro an...
Source: Congenital Anomalies - November 1, 2017 Category: Genetics & Stem Cells Authors: Masato Takimoto Tags: Mini Review Source Type: research
Retroperitoneal gastric duplication mimicking a prenatal adrenal cyst
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - October 12, 2017 Category: Genetics & Stem Cells Source Type: research
Novel A178P mutation in SLC16A2 in a patient with Allan ‐Herndon‐Dudley syndrome
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - October 12, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies, Ahead of Print. (Source: Congenital Anomalies)
Source: Congenital Anomalies - October 12, 2017 Category: Genetics & Stem Cells Source Type: research
Novel A178P mutation in SLC16A2 in a patient with Allan ‐Herndon‐Dudley syndrome
(Source: Congenital Anomalies)
Source: Congenital Anomalies - October 12, 2017 Category: Genetics & Stem Cells Authors: Toshiyuki Yamamoto, Yongping Lu, Ryoko Nakamura, Keiko Shimojima, Ryutaro Kira Tags: Note Source Type: research
Coffin ‐Siris syndrome and cardiac anomaly with a novel SOX11 mutation
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - October 6, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies, Ahead of Print. (Source: Congenital Anomalies)
Source: Congenital Anomalies - October 6, 2017 Category: Genetics & Stem Cells Source Type: research
Re ‐evaluation of lung to thorax transverse area ratio immediately before birth in predicting postnatal short‐term outcomes of fetuses with isolated left‐sided congenital diaphragmatic hernia: A single center analysis
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - September 26, 2017 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies, Ahead of Print. (Source: Congenital Anomalies)
Source: Congenital Anomalies - September 26, 2017 Category: Genetics & Stem Cells Source Type: research
Neural tube defects and folic acid in Japan: Prologue introduction ‐ Understanding of the current status of Japan and the proposal from Japanese Teratology Society
(Source: Congenital Anomalies)
Source: Congenital Anomalies - September 4, 2017 Category: Genetics & Stem Cells Authors: Toshiaki Watanabe Tags: Overview Source Type: research
Issue Information
Folate is one of the soluble vitamin B groups. Chemical structural features of the folate family include a pteridine ring (red), p‐aminobenzoic acid (blue), and one or more gamma‐linked glutamic acid residues (yellow). Natural folates found in foods occur mainly in the polyglutamate form, containing from 2 to 10 additional glutamate residues joined to the first glutamate. Upper: folic (pteroyl‐L‐glutamic) acid. Lower: polyglutamyl tetrahydrofolates. See related articles by Watanabe and by Ebara in this issue. (Source: Congenital Anomalies)
Source: Congenital Anomalies - September 4, 2017 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
The Blechschmidt Collection: revisiting specimens from a historical collection of serially sectioned human embryos and fetuses using modern imaging techniques
Abstract
Along with the Carnegie Collection in the United States and the Kyoto Collection in Japan, the Blechschmidt Collection (Georg‐August‐University of Göttingen, Germany) is a major historical human embryo and fetus collection. These collections are of enormous value to human embryology; however, due to the nature of the historical histological specimens, some stains are fading in color, and some glass slides are deteriorating over time. To protect these specimens against such degradation and ensure their future usefulness, we tried to apply modern image scanning and computational reconstruction. Samples of histo...
Source: Congenital Anomalies - September 1, 2017 Category: Genetics & Stem Cells Authors: Reina Miyazaki, Haruyuki Makishima, J örg Männer, Hans‐Georg Sydow, Chigako Uwabe, Tetsuya Takakuwa, Christoph Viebahn, Shigehito Yamada Tags: Original Article Source Type: research
Association of MEOX2 Polymorphism with Nonsyndromic Cleft Palate Only in a Vietnamese population
This study findings suggest that nonsyndromic isolated cleft palate might be influenced by variation of MEOX2, especially SNP rs2237493 in Vietnamese females. Copyright © 2017 John Wiley & Sons, Ltd. (Source: Congenital Anomalies)
Source: Congenital Anomalies - September 1, 2017 Category: Genetics & Stem Cells Authors: Duy Le Tran, Hideto Imura, Akihiro Mori, Satoshi Suzuki, Teruyuki Niimi, Maya Ono, Chisato Sakuma, Shinichi Nakahara, Tham Thi Hong Nguyen, Phuong Thi Pham, Viet Hoang, Van Thi Tuyet Tran, Minh Duc Nguyen, Nagato Natsume Tags: Original Article Source Type: research
A novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis
Abstract
Osteopathia striata with cranial sclerosis (OSCS) (MIM #300373) is a rare X‐linked dominant bone dysplasia characterized by cranial sclerosis and linear striations in the long bones of females, and fetal or neonatal lethality in affected males. (Source: Congenital Anomalies)
Source: Congenital Anomalies - September 1, 2017 Category: Genetics & Stem Cells Authors: Yumi Enomoto, Yoshinori Tsurusaki, Noriaki Harada, Noriko Aida, Kenji Kurosawa Tags: Note Source Type: research
