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Literature citations Results

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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw N.D., Brand H., Kupchinsky Z.A., Bengani H., Plummer L., Jones T.I., Erdin S., Williamson K.A., Rainger J., Stortchevoi A. et al.

Nat. Genet. 49:238-248(2017) · UniProtKB (1) · Mapped (3)

Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction.

Ishikawa T., Ohno S., Murakami T., Yoshida K., Mishima H., Fukuoka T., Kimoto H., Sakamoto R., Ohkusa T., Aiba T. et al.

Heart Rhythm 14:717-724(2017) · Mapped (1)

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

Seki A., Ishikawa T., Daumy X., Mishima H., Barc J., Sasaki R., Nishii K., Saito K., Urano M., Ohno S. et al.

J. Am. Coll. Cardiol. 70:358-370(2017) · Mapped (7)

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.

Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M., Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H. et al.

Nat. Genet. 44:586-592(2012) · UniProtKB (3) · Mapped (43)

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

Ono S., Yoshiura K.I., Kinoshita A., Kikuchi T., Nakane Y., Kato N., Sadamatsu M., Konishi T., Nagamitsu S., Matsuura M. et al.

J. Hum. Genet. 57:338-341(2012) · UniProtKB (1)

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.

Kuniba H., Tsuda M., Nakashima M., Miura S., Miyake N., Kondoh T., Matsumoto T., Moriuchi H., Ohashi H., Kurosawa K. et al.

J. Med. Genet. 45:479-480(2008) · Mapped (3)

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

Shimizu H., Watanabe S., Kinoshita A., Mishima H., Nishimura G., Moriuchi H., Yoshiura K.I., Dateki S.

J. Hum. Genet. 64:467-471(2019) · Mapped (2)

Genotype Analyses in the Japanese and Belarusian Populations Reveal Independent Effects of rs965513 and rs1867277 but Do Not Support the Role of FOXE1 Polyalanine Tract Length in Conferring Risk for Papillary Thyroid Carcinoma.

Nikitski A.V., Rogounovitch T.I., Bychkov A., Takahashi M., Yoshiura K.I., Mitsutake N., Kawaguchi T., Matsuse M., Drozd V.M., Demidchik Y. et al.

Thyroid 27:224-235(2017) · Mapped (1)

Genetic variants in oxytocin receptor and arginine-vasopressin receptor 1A are associated with the neural correlates of maternal and paternal affection towards their child.

Nishitani S., Ikematsu K., Takamura T., Honda S., Yoshiura K.I., Shinohara K.

Horm Behav 87:47-56(2017) · Mapped (9)

Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still's disease.

Asano T., Furukawa H., Sato S., Yashiro M., Kobayashi H., Watanabe H., Suzuki E., Ito T., Ubara Y., Kobayashi D. et al.

Arthritis Res. Ther. 19:199-199(2017) · Mapped (1,734)

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Gordon C.T., Xue S., Yigit G., Filali H., Chen K., Rosin N., Yoshiura K.I., Oufadem M., Beck T.J., McGowan R. et al.

Nat. Genet. 49:249-255(2017) · UniProtKB (2) · Mapped (1)

Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.

Iwanaga A., Okubo Y., Yozaki M., Koike Y., Kuwatsuka Y., Tomimura S., Yamamoto Y., Tamura H., Ikeda S., Maemura K. et al.

J. Dermatol. 44:644-650(2017) · Mapped (2)

A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene.

Hori Y.S., Yamada A., Matsuda N., Ono Y., Starenki D., Sosonkina N., Yoshiura K.I., Niikawa N., Ohta T.

Hum. Biol. 89:305-307(2017) · Mapped (4)

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.

Motokawa M., Watanabe S., Nakatomi A., Kondoh T., Matsumoto T., Morifuji K., Sawada H., Nishimura T., Nunoi H., Yoshiura K.I. et al.

J. Hum. Genet. 63:387-390(2018) · Mapped (7)

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