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Author Gen Nishimura

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Unique skeletal manifestations in patients with Primrose syndrome.

Veronica Arora, Eyby Leon, Jullianne Diaz, Hanne Buciek Hove, Daniel Rocha Carvalho, Kenji Kurosawa, Naoto Nishimura, Gen Nishimura, Renu Saxena, Carlos Ferreira, Ratna Dua Puri, Ishwar C Verma,

Primrose syndrome (OMIM 259050) is a rare disorder characterised by macrocephaly with developmental delay, a recognisable facial phenotype, altered glucose metabolism, and other features such as sensorineural hearing loss, short stature, and calcification of the ear cartilage. It is caused by heterozygous variants in ZBTB20, a member of the POK ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(8):103967]

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Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.

Ebba Alkhunaizi, Sharon Unger, Patrick Shannon, Gen Nishimura, Susan Blaser, David Chitayat,

Our improved tools to identify the aetiologies in patients with multiple abnormalities resulted in the finding that some patients have more than a single genetic condition and that some of the diagnoses made in the past are acquired rather than inherited. However, limited knowledge has been accumulated regarding the phenotypic ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(7):1807-1811]

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Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Yin-Huai Chen, Giedre Grigelioniene, Phillip T Newton, Jacob Gullander, Maria Elfving, Anna Hammarsjö, Dominyka Batkovskyte, Hessa S Alsaif, Wesam I Y Kurdi, Firdous Abdulwahab, Veerabahu Shanmugasundaram, Luke Devey, Séverine Bacrot, Jana Brodszki, Celine Huber, Ben Hamel, David Gisselsson, Nikos Papadogiannakis, Katarina Jedrycha, Barbara Gürtl-Lackner, Andrei S Chagin, Gen Nishimura, Dominik Aschenbrenner, Fowzan S Alkuraya, Arian Laurence, Valérie Cormier-Daire, Holm H Uhlig,

The gene IL6ST encodes GP130, the common signal transducer of the IL-6 cytokine family consisting of 10 cytokines. Previous studies have identified cytokine-selective IL6ST defects that preserve LIF signaling. We describe three unrelated families with at least five affected individuals who presented with lethal Stüve-Wiedemann-like syndrome characterized by skeletal dysplasia ... Read more >>

J. Exp. Med. (The Journal of experimental medicine)
[2020, 217(3):]

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Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.

Nao Takizaki, Yoshinori Tsurusaki, Kaoru Katsumata, Yumi Enomoto, Hiroaki Murakami, Koji Muroya, Hiroshi Ishikawa, Noriko Aida, Gen Nishimura, Kenji Kurosawa,

3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome caused by the biallelic novel variants c.1705_1708del and c.1989_1999del of CUL7. Skeletal features were consistent ... Read more >>

Hum Genome Var (Human genome variation)
[2020, 7:1]

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Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

Alicia B Byrne, Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng, Andreas W Schreiber, Milena Babic, Sarah L King-Smith, Christopher P Barnett, Lynette Moore, Kazuyuki Sugahara, Hatice Mutlu-Albayrak, Gen Nishimura, Jan E Liebelt, Shuhei Yamada, Ravi Savarirayan, Hamish S Scott,

BACKGROUND:Pseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early lethality. Clinically, PDD is classified as a 'dysplasia with multiple joint dislocations'; however, the molecular aetiology of the disorder is currently unknown. METHODS:Whole exome sequencing (WES) was performed on three patients from two unrelated families, clinically ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2020, 57(7):454-460]

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Defining the clinical phenotype of Saul-Wilson syndrome.

Carlos R Ferreira, Wadih M Zein, Laryssa A Huryn, Andrea Merker, Seth I Berger, William G Wilson, George E Tiller, Lynne A Wolfe, Melissa Merideth, Daniel R Carvalho, Angela L Duker, Heiko Bratke, Marte Gjøl Haug, Luis Rohena, Hanne B Hove, Zhi-Jie Xia, Bobby G Ng, Hudson H Freeze, Melissa Gabriel, Alvaro H Serrano Russi, Lauren Brick, Mariya Kozenko, Dawn L Earl, Emma Tham, Gen Nishimura, John A Phillips, William A Gahl, Rizwan Hamid, Andrew P Jackson, Giedre Grigelioniene, Michael B Bober,

PURPOSE:Four patients with Saul-Wilson syndrome were reported between 1982 and 1994, but no additional individuals were described until 2018, when the molecular etiology of the disease was elucidated. Hence, the clinical phenotype of the disease remains poorly defined. We address this shortcoming by providing a detailed characterization of its phenotype. ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(5):857-866]

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Skeletal ciliopathies: a pattern recognition approach.

Atsuhiko Handa, Ulrika Voss, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura,

Ciliopathy encompasses a diverse group of autosomal recessive genetic disorders caused by mutations in genes coding for components of the primary cilia. Skeletal ciliopathy forms a subset of ciliopathies characterized by distinctive skeletal changes. Common skeletal ciliopathies include Jeune asphyxiating thoracic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome, and short-rib polydactyly ... Read more >>

Jpn J Radiol (Japanese journal of radiology)
[2020, 38(3):193-206]

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Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.

Taisuke Sato, Takashi Kojima, Osamu Samura, Satoshi Kawaguchi, Akie Nakamura, Masahiro Nakajima, Akiko Tanuma-Takahashi, Kazuhiko Nakabayashi, Kenichiro Hata, Shiro Ikegawa, Gen Nishimura, Aikou Okamoto, Takahiro Yamada,

We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation in solute carrier family 26 member 2 (SLC26A2), a gene associated with ACG1B (NM_000112:c.1987G>A). This loss-of-function point ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(4):735-739]

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Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Marcello Niceta, Domenico Barbuti, Neerja Gupta, Carlos Ruggiero, Eduardo F Tizzano, Luitgard Graul-Neumann, Sabina Barresi, Gen Nishimura, Irene Valenzuela, Fermina López-Grondona, Paula Fernandez-Alvarez, Chiara Leoni, Christiane Zweier, Andreas Tzschach, Emilia Stellacci, Andrea Del Fattore, Bruno Dallapiccola, Giuseppe Zampino, Marco Tartaglia,

Aymé-Gripp syndrome (AYGRPS) is a recognizable condition caused by a restricted spectrum of dominantly acting missense mutations affecting the transcription factor MAF. Major clinical features of AYGRPS include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. Skeletal abnormalities have also been observed in affected individuals, ... Read more >>

Clin. Genet. (Clinical genetics)
[2020, 97(2):362-369]

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Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

Katta M Girisha, Gandham S Bhavani, Hitesh Shah, Amita Moirangthem, Anju Shukla, Ok-Hwa Kim, Gen Nishimura, Geert R Mortier,

The phenotypic spectrum of Type 2 collagenopathies ranges from lethal achondrogenesis Type 2 to milder osteoarthritis with mild chondrodysplasia. All of them are monoallelic except for the two recent reports showing that biallelic variants in COL2A1 can cause spondyloepiphyseal dysplasia congenita in two children. Here we report two additional families ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(2):338-347]

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Nosology and classification of genetic skeletal disorders: 2019 revision.

Geert R Mortier, Daniel H Cohn, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen Robertson, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Andrea Superti-Furga, Sheila Unger, Matthew L Warman,

The application of massively parallel sequencing technology to the field of skeletal disorders has boosted the discovery of the underlying genetic defect for many of these diseases. It has also resulted in the delineation of new clinical entities and the identification of genes and pathways that had not previously been ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2019, 179(12):2393-2419]

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National survey of prevalence and prognosis of thanatophoric dysplasia in Japan.

Hideaki Sawai, Kaname Oka, Mariko Ushioda, Gen Nishimura, Takashi Omori, Hironao Numabe, Shinji Kosugi,

BACKGROUND:Thanatophoric dysplasia (TD) is a rare congenital disease of the skeletal system, with an incidence of 1.68-8.3 per 100 000 births, but statistical data on the estimated number of TD patients across Japan are not available. The aim of this study was therefore to investigate the prevalence and prognosis of TD ... Read more >>

Pediatr Int (Pediatrics international : official journal of the Japan Pediatric Society)
[2019, 61(8):748-753]

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De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.

Daisuke Shimizu, Rieko Sakamoto, Kaori Yamoto, Hirotomo Saitsu, Maki Fukami, Gen Nishimura, Tsutomu Ogata,

Mesomelic dysplasia (MD) encompasses a heterogeneous group of disorders characterized by shortening of the middle segments of the limbs. Previous studies have revealed the development of Nievergelt type-like MD accompanied by postaxial toe reduction in a patient with a ~500 kb microdeletion at 2q11.2 involving AFF3 alone, and the occurrence of ... Read more >>

J. Hum. Genet. (Journal of human genetics)
[2019, 64(10):1041-1044]

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A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.

Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Yoshinori Tsurusaki, Yukiko Kuroda, Hiroshi Ishikawa, Makiko Ohyama, Noriko Aida, Gen Nishimura, Kenji Kurosawa,

Ellis-van Creveld syndrome (EvC MIM. #225500) is an autosomal recessive skeletal dysplasia characterised by thoracic hypoplasia, cardiac anomalies, acromesomelic limb shortening, and postaxial polydactyly. Affected individuals commonly manifest with cardiorespiratory failure as neonates but generally survive neonatal difficulties. We report here on affected Japanese sibs with a lethal phenotype of ... Read more >>

Hum Genome Var (Human genome variation)
[2019, 6:40]

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New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report.

Ken-Ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada, Gen Nishimura,

BACKGROUND:Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatological, cardiovascular, optic, or hearing disorders). However, it does not always present this way. Recent reports have suggested that genome-wide sequencing is an ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2019, 20(1):126]

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TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.

Jing-Yi Xue, Zheng Wang, Satoshi Shinagawa, Hirofumi Ohashi, Nao Otomo, Nursel H Elcioglu, Tomoki Nakashima, Gen Nishimura, Shiro Ikegawa, Long Guo,

Dysosteosclerosis (DOS) is a distinct form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. DOS is genetically heterogeneous; however, only five cases with SLC29A3 mutations and a single case with a splice-site mutation of TNFRSF11A have been reported, and TNFRSF11A is also a causal gene for osteopetrosis, autosomal ... Read more >>

J. Bone Miner. Res. (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research)
[2019, 34(10):1873-1879]

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Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

Kaori Yamoto, Hirotomo Saitsu, Gen Nishimura, Rika Kosaki, Shinichiro Takayama, Nobuhiko Haga, Hidefumi Tonoki, Akihisa Okumura, Emiko Horii, Nobuhiko Okamoto, Hiroshi Suzumura, Shiro Ikegawa, Fumiko Kato, Yasuko Fujisawa, Eiko Nagata, Shuji Takada, Maki Fukami, Tsutomu Ogata,

Split-hand/foot malformation (SHFM) is a clinically and genetically heterogeneous condition. We sequentially performed screening of the previously identified Japanese founder 17p13.3 duplication/triplication involving BHLHA9, array comparative genomic hybridization, and whole exome sequencing (WES) in newly recruited 41 Japanese families with non-syndromic and syndromic SHFM. We also carried out WES in ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2019, 27(12):1845-1857]

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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

Long Guo, Débora Romeo Bertola, Asako Takanohashi, Asuka Saito, Yuko Segawa, Takanori Yokota, Satoru Ishibashi, Yoichiro Nishida, Guilherme Lopes Yamamoto, José Francisco da Silva Franco, Rachel Sayuri Honjo, Chong Ae Kim, Camila Manso Musso, Margaret Timmons, Amy Pizzino, Ryan J Taft, Bryan Lajoie, Melanie A Knight, Kenneth H Fischbeck, Andrew B Singleton, Carlos R Ferreira, Zheng Wang, Li Yan, James Y Garbern, Pelin O Simsek-Kiper, Hirofumi Ohashi, Pamela G Robey, Alan Boyde, Naomichi Matsumoto, Noriko Miyake, Jürgen Spranger, Raphael Schiffmann, Adeline Vanderver, Gen Nishimura, Maria Rita Dos Santos Passos-Bueno, Cas Simons, Kinya Ishikawa, Shiro Ikegawa,

Colony stimulating factor 1 receptor (CSF1R) plays key roles in regulating development and function of the monocyte/macrophage lineage, including microglia and osteoclasts. Mono-allelic mutations of CSF1R are known to cause hereditary diffuse leukoencephalopathy with spheroids (HDLS), an adult-onset progressive neurodegenerative disorder. Here, we report seven affected individuals from three unrelated ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2019, 104(5):925-935]

Cited: 2 times

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A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.

Yukiko Kuroda, Hiroaki Murakami, Yumi Enomoto, Yoshinori Tsurusaki, Kazumi Takahashi, Kanako Mitsuzuka, Hitoshi Ishimoto, Gen Nishimura, Kenji Kurosawa,

Desbuquois dysplasia (DBQD) is an autosomal recessive heterogeneous disorder characterized by joint laxity and skeletal changes, including a distinctive monkey-wrench appearance of the femora, advanced carpal ossification, and abnormal patterning of the preaxial digits. Two genes for DBQD (CANT1 encoding calcium-activated nucleotidase-1 and XYLT1 encoding xylosyltransferase-1) have been reported. We ... Read more >>

Clin. Genet. (Clinical genetics)
[2019, 95(6):713-717]

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Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Anika Wehrle, Tomasz M Witkos, Sheila Unger, Judith Schneider, John A Follit, Johannes Hermann, Tim Welting, Virginia Fano, Marja Hietala, Nithiwat Vatanavicharn, Katharina Schoner, Jürgen Spranger, Miriam Schmidts, Bernhard Zabel, Gregory J Pazour, Agnes Bloch-Zupan, Gen Nishimura, Andrea Superti-Furga, Martin Lowe, Ekkehart Lausch,

Odontochondrodysplasia (ODCD) is an unresolved genetic disorder of skeletal and dental development. Here, we show that ODCD is caused by hypomorphic TRIP11 mutations, and we identify ODCD as the nonlethal counterpart to achondrogenesis 1A (ACG1A), the known null phenotype in humans. TRIP11 encodes Golgi-associated microtubule-binding protein 210 (GMAP-210), an essential ... Read more >>

JCI Insight (JCI insight)
[2019, 4(3):]

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Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.

Zoran Gucev, Velibor Tasic, Ivona Bogevska, Nevenka Laban, Alek Saveski, Momir Polenakovic, Dijana Plaseska-Karanfilska, Katalin Komlosi, Jennifer Winter, Susann Schweiger, Gen Nishimura, Jürgen Spranger, Oliver Bartsch,

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(1):103613]

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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

Giedre Grigelioniene, Hiroshi I Suzuki, Fulya Taylan, Fatemeh Mirzamohammadi, Zvi U Borochowitz, Ugur M Ayturk, Shay Tzur, Eva Horemuzova, Anna Lindstrand, Mary Ann Weis, Gintautas Grigelionis, Anna Hammarsjö, Elin Marsk, Ann Nordgren, Magnus Nordenskjöld, David R Eyre, Matthew L Warman, Gen Nishimura, Phillip A Sharp, Tatsuya Kobayashi,

MicroRNAs (miRNAs) are post-transcriptional regulators of gene expression. Heterozygous loss-of-function point mutations of miRNA genes are associated with several human congenital disorders1-5, but neomorphic (gain-of-new-function) mutations in miRNAs due to nucleotide substitutions have not been reported. Here we describe a neomorphic seed region mutation in the chondrocyte-specific, super-enhancer-associated MIR140 gene ... Read more >>

Nat. Med. (Nature medicine)
[2019, 25(4):583-590]

Cited: 5 times

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Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.

Hitomi Shimizu, Satoshi Watanabe, Akira Kinoshita, Hiroyuki Mishima, Gen Nishimura, Hiroyuki Moriuchi, Koh-Ichiro Yoshiura, Sumito Dateki,

Spondylocarpotarsal synostosis syndrome, a rare syndromic skeletal disorder characterized by disrupted vertebral segmentation with vertebral fusion, scoliosis, short stature, and carpal/tarsal synostosis, has been associated with biallelic truncating mutations in the filamin B gene or monoallelic mutations in the myosin heavy chain 3 gene. We herein report the case of ... Read more >>

J. Hum. Genet. (Journal of human genetics)
[2019, 64(5):467-471]

Cited: 1 time

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The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.

Yasuyuki Fukuhara, Sung Y Cho, Osamu Miyazaki, Atsushi Hattori, Joo-Hyun Seo, Ryuichi Mashima, Motomichi Kosuga, Maki Fukami, Dong-Kyu Jin, Torayuki Okuyama, Gen Nishimura,

Clin. Dysmorphol. (Clinical dysmorphology)
[2019, 28(1):26-29]

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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.

Katta M Girisha, Leonie von Elsner, Kausthubham Neethukrishna, Mamta Muranjan, Anju Shukla, Gandham SriLakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier,

Spondyloepimetaphyseal dysplasias (SEMD) are a group of genetically heterogeneous skeletal disorders characterized by abnormal vertebral bodies and epimetaphyseal abnormalities. We investigated two families with a new SEMD type with one proband each. They showed mild facial dysmorphism, flat vertebral bodies (platyspondyly), large epiphyses, metaphyseal dysplasia, and hallux valgus as common ... Read more >>

Hum. Mutat. (Human mutation)
[2019, 40(3):299-309]

Cited: 3 times

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