Tada, Hayato Fujino, Noboru Nomura, Akihiro Nakanishi, Chiaki Hayashi, Kenshi Takamura, Masayuki Kawashiri, Masa-Aki
Published in
Journal of human genetics
Personalized medicine is an emerging concept involving managing the health of patients based on their individual characteristics, including particular genotypes. Cardiovascular diseases are heritable traits, and family history information is useful for risk prediction. As such, determining genetic information (germline genetic mutations) may also b...
Simsek-Kiper, Pelin Ozlem Urel-Demir, Gizem Taskiran, Ekim Z Arslan, Umut Ece Nur, Banu Mihci, Ercan Haliloglu, Mithat Alanay, Yasemin Utine, Gulen Eda Boduroglu, Koray
...
Published in
Journal of human genetics
Acromesomelic dysplasia type Maroteaux (AMDM, OMIM #602875) is an autosomal recessive disorder characterized by severe short stature, shortened middle and distal segments of the limbs, redundant skin of fingers, radial head subluxation or dislocation, large great toes and cranium, and normal intelligence. Only the skeletal system appears to be cons...
Ádám, Valerián Bánfai, Zsolt Maász, Anita Sümegi, Katalin Miseta, Attila Melegh, Béla
Published in
Journal of human genetics
Csango people are an East-Central European ethnographic group living mostly in the historical region of Moldavia, Romania. Their traditional language, the Csango is an old Hungarian dialect, which is a severely endangered language due to language shift. Their origin is still disputed among experts and there are many hypotheses since the 19th centur...
Errichiello, Edoardo Zagnoli-Vieira, Guido Rizzi, Romana Garavelli, Livia Caldecott, Keith W Zuffardi, Orsetta
Published in
Journal of human genetics
TDP2 encodes a 5'-tyrosyl DNA phosphodiesterase required for the efficient repair of double-strand breaks (DSBs) induced by the abortive activity of DNA topoisomerase II (TOP2). To date, only three homozygous variants in TDP2 have been reported in six patients from four unrelated pedigrees with spinocerebellar ataxia 23 (SCAR23). By whole-exome seq...
Bai, Fan Zhang, Xinglong Ji, Xueping Cao, Peng Feng, Xiaotian Yang, Ruowei Peng, Minsheng Pei, Shuwen Fu, Qiaomei
Published in
Journal of human genetics
The genetic history of Southern East Asians is not well-known, especially prior to the Neolithic period. To address this, we successfully sequenced two complete mitochondrial genomes of 11,000-year-old human individuals from Southern China, thus generating the oldest ancient DNA sequences from this area. Integrating published mitochondrial genomes,...
Ohno, Seiko Ozawa, Junichi Fukuyama, Megumi Makiyama, Takeru Horie, Minoru
Published in
Journal of human genetics
Mutations in KCNQ1, KCNH2, and SCN5A are the major cause of long QT syndrome (LQTS). More than 90% of the genotyped patients have been reported to carry mutations in any of these three genes. Thanks to increasing popularity of next generation sequencer (NGS), novel CACNA1C mutations have been identified among LQTS patients without extra-cardiac phe...
Okada, Daigo Nakamura, Naotoshi Setoh, Kazuya Kawaguchi, Takahisa Higasa, Koichiro Tabara, Yasuharu Matsuda, Fumihiko Yamada, Ryo
Published in
Journal of human genetics
Human immune systems are very complex, and the basis for individual differences in immune phenotypes is largely unclear. One reason is that the phenotype of the immune system is so complex that it is very difficult to describe its features and quantify differences between samples. To identify the genetic factors that cause individual differences in...
Nozawa, Akifumi Ozeki, Michio Niihori, Tetsuya Suzui, Natsuko Miyazaki, Tatsuhiko Aoki, Yoko
Published in
Journal of human genetics
Gorham-Stout disease (GSD), a rare disorder of unknown etiology, is characterized by massive osteolysis that is associated with proliferation and dilation of lymphatic vessels. Variants in cancer-associated genes have been described in complex lymphatic anomalies. To explore the pathogenesis of GSD, we performed the amplicon-based deep sequencing o...
Pasumarthi, Divya Gupta, Neerja Sheth, Jayesh Jain, S Jamal Md Nurul Rungsung, Ikrormi Kabra, Madhulika Ranganath, Prajnya Aggarwal, Shagun Phadke, Shubha R Girisha, Katta M
...
Published in
Journal of human genetics
Mucolipidosis (ML) (OMIM 607840 & 607838) is a rare autosomal recessive inherited disorder that occurs due to the deficiency of golgi enzyme uridine diphosphate (UDP)- N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) responsible for tagging mannose-6-phosphate for proper trafficking of lysosomal enzymes to lysosomes. Variants in...
Yin, Hailing Peng, Rui Chen, Zhongzhong Wang, Hongyan Zhang, Ting Zheng, Yufang
Published in
Journal of human genetics
Neural tube defects (NTDs) are debilitating human congenital abnormalities due to failure of neural tube closure. Sonic Hedgehog (SHH) signaling is required for dorsal-ventral patterning of the neural tube. The loss of activation in SHH signaling normally causes holoprosencephaly while the loss of inhibition causes exencephaly due to failure in neu...