Search Results - "FUKAMI, M"

A heterozygous protein‐truncating RFX6 variant in a family with childhood‐onset, pregnancy‐associated and adult‐onset diabetes by Akiba, K., Ushijima, K., Fukami, M., Hasegawa, Y.

“…Background Recently, heterozygous RFX6 mutations including p.Arg377Ter were identified in individuals with maturity‐onset diabetes of the young (MODY)…”
Get full text

Catastrophic cellular events leading to complex chromosomal rearrangements in the germline by Fukami, M., Shima, H., Suzuki, E., Ogata, T., Matsubara, K., Kamimaki, T.

“…Although complex chromosomal rearrangements were thought to reflect the accumulation of DNA damage over time, recent studies have shown that such…”
Get full text

Aneuploid rescue precedes X-chromosome inactivation and increases the incidence of its skewness by reducing the size of the embryonic progenitor cell pool by Yoshida, T, Miyado, M, Mikami, M, Suzuki, E, Kinjo, K, Matsubara, K, Ogata, T, Akutsu, H, Kagami, M, Fukami, M

“…Do monosomy rescue (MR) and trisomy rescue (TR) in preimplantation human embryos affect other developmental processes, such as X-chromosome inactivation (XCI)?…”
Get full text

Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients by Kon, M., Suzuki, E., Dung, V.C., Hasegawa, Y., Mitsui, T., Muroya, K., Ueoka, K., Igarashi, N., Nagasaki, K., Oto, Y., Hamajima, T., Yoshino, K., Igarashi, M., Kato-Fukui, Y., Nakabayashi, K., Hayashi, K., Hata, K., Matsubara, Y., Moriya, K., Ogata, T., Nonomura, K., Fukami, M.

“…STUDY QUESTION What percentage of cases with non-syndromic hypospadias can be ascribed to mutations in known causative/candidate/susceptibility genes or…”
Get full text

Protein‐altering variants of PTPN2 in childhood‐onset Type 1A diabetes by Okuno, M., Ayabe, T., Yokota, I., Musha, I., Shiga, K., Kikuchi, T., Kikuchi, N., Ohtake, A., Nakamura, A., Nakabayashi, K., Okamura, K., Momozawa, Y., Kubo, M., Suzuki, J., Urakami, T., Kawamura, T., Amemiya, S., Ogata, T., Sugihara, S., Fukami, M.

“…Aim To examine the contribution of PTPN2 coding variants to the risk of childhood‐onset Type 1A diabetes. Methods PTPN2 mutation analysis was carried out for…”
Get full text

Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes by Ushijima, K., Okuno, M., Ayabe, T., Kikuchi, N., Kawamura, T., Urakami, T., Yokota, I., Amemiya, S., Uchiyama, T., Kikuchi, T., Ogata, T., Sugihara, S., Fukami, M.

“…Aim To clarify the prevalence and degree of maternal microchimerism in Japanese children with type 1 diabetes, as well as its effect on phenotypic variation…”
Get full text

Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat by Matsubara, K., Murakami, N., Fukami, M., Kagami, M., Nagai, T., Ogata, T.

“…Recent studies have suggested that disomic oocyte‐mediated uniparental disomy 15 (UPD(15)mat) is increased in patients with Prader–Willi syndrome (PWS) born…”
Get full text

Next‐generation sequencing for patients with non‐obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations by Nakamura, S., Miyado, M., Saito, K., Katsumi, M., Nakamura, A., Kobori, Y., Tanaka, Y., Ishikawa, H., Yoshida, A., Okada, H., Hata, K., Nakabayashi, K., Okamura, K., Ogata, H., Matsubara, Y., Ogata, T., Nakai, H., Fukami, M.

“…Summary Azoospermia affects up to 1% of adult men. Non‐obstructive azoospermia is a multifactorial disorder whose molecular basis remains largely unknown. To…”
Get full text

FUT2 non‐secretor status is associated with Type 1 diabetes susceptibility in Japanese children by Ihara, K., Fukano, C., Ayabe, T., Fukami, M., Ogata, T., Kawamura, T., Urakami, T., Kikuchi, N., Yokota, I., Takemoto, K., Mukai, T., Nishii, A., Kikuchi, T., Mori, T., Shimura, N., Sasaki, G., Kizu, R., Takubo, N., Soneda, S., Fujisawa, T., Takaya, R., Kizaki, Z., Kanzaki, S., Hanaki, K., Matsuura, N., Kasahara, Y., Kosaka, K., Takahashi, T., Minamitani, K., Matsuo, S., Mochizuki, H., Kobayashi, K., Koike, A., Horikawa, R., Teno, S., Tsubouchi, K., Mochizuki, T., Igarashi, Y., Amemiya, S., Sugihara, S.

“…Aim To examine the contribution of the FUT2 gene and ABO blood type to the development of Type 1 diabetes in Japanese children. Methods We analysed FUT2…”
Get full text

Copy number variations in the amylase gene (AMY2B) in Japanese native dog breeds by Tonoike, A, Hori, Y, Inoue‐Murayama, M, Konno, A, Fujita, K, Miyado, M, Fukami, M, Nagasawa, M, Mogi, K, Kikusui, T

“…A recent study suggested that increased copy numbers of the AMY2B gene might be a crucial genetic change that occurred during the domestication of dogs. To…”
Get full text

Variants associated with autoimmune Type 1 diabetes in Japanese children: implications for age-specific effects of cis-regulatory haplotypes at 17q12-q21 by Ayabe, T., Fukami, M., Ogata, T., Kawamura, T., Urakami, T., Kikuchi, N., Yokota, I., Ihara, K., Takemoto, K., Mukai, T., Nishii, A., Kikuchi, T., Mori, T., Shimura, N., Sasaki, G., Kizu, R., Takubo, N., Soneda, S., Fujisawa, T., Takaya, R., Kizaki, Z., Kanzaki, S., Hanaki, K., Matsuura, N., Kasahara, Y., Kosaka, K., Takahashi, T., Minamitani, K., Matsuo, S., Mochizuki, H., Kobayashi, K., Koike, A., Horikawa, R., Teno, S., Tsubouchi, K., Mochizuki, T., Igarashi, Y., Amemiya, S., Sugihara, S.

“…Aims The aim of this study was to clarify the significance of previously reported susceptibility variants in the development of autoimmune Type 1 diabetes in…”
Get full text

Construction of an integrated high density simple sequence repeat linkage map in cultivated strawberry (Fragaria × ananassa) and its applicability by Isobe, Sachiko N, Hirakawa, Hideki, Sato, Shusei, Maeda, Fumi, Ishikawa, Masami, Mori, Toshiki, Yamamoto, Yuko, Shirasawa, Kenta, Kimura, Mitsuhiro, Fukami, Masanobu, Hashizume, Fujio, Tsuji, Tomoko, Sasamoto, Shigemi, Kato, Midori, Nanri, Keiko, Tsuruoka, Hisano, Minami, Chiharu, Takahashi, Chika, Wada, Tsuyuko, Ono, Akiko, Kawashima, Kumiko, Nakazaki, Naomi, Kishida, Yoshie, Kohara, Mitsuyo, Nakayama, Shinobu, Yamada, Manabu, Fujishiro, Tsunakazu, Watanabe, Akiko, Tabata, Satoshi

“…The cultivated strawberry (Fragaria × ananassa) is an octoploid (2n = 8x = 56) of the Rosaceae family whose genomic architecture is still controversial…”
Get full text

Genomic variation in the azf region associated with the risk of azoospermia by Saito, K, Yoshida, A, Kobori, Y, Tanaka, Y, Katsumi, M, Miyado, M, Ogata, T, Kubota, T, Saito, H, Fukami, M, Okada, H

Get full text

The Hippocampal Cholinergic Neurostimulating Peptide, the N-terminal Fragment of the Secreted Phosphatidylethanolamine-binding Protein, Possesses a New Biological Activity on Cardiac Physiology by Goumon, Yannick, Angelone, Tommaso, Schoentgen, Françoise, Chasserot-Golaz, Sylvette, Almas, Bjorg, Fukami, Miriam M., Langley, Keith, Welters, Ingeborg D., Tota, Bruno, Aunis, Dominique, Metz-Boutigue, Marie-Hélène

“…Phosphatidylethanolamine-binding protein (PEBP), alternatively named Raf-1 kinase inhibitor protein, is the precursor of the hippocampal cholinergic…”
Get full text

Polymorphisms of MAMLD1 gene in hypospadias by Kalfa, N, Cassorla, F, Audran, F, Oulad Abdennabi, I, Philibert, P, Béroud, C, Guys, J.M, Reynaud, R, Alessandrini, P, Wagner, K, Bréaud, J, Valla, J.S, Morisson Lacombe, G, Daures, J.P, Baskin, L, Fukami, M, Ogata, T, Sultan, C

“…Abstract Purpose Mastermind-like domain containing 1 (MAMLD1) is a causative gene for the fetal development of male external genitalia. Almost 10% of patients…”
Get full text

MAMLD1 (CXorf6): a new gene for hypospadias by Ogata, T, Wada, Y, Fukami, M

“…MAMLD1 (mastermind-like domain containing 1), also known as CXorf6 (chromosome X open reading frame 6) has been shown to be a causative gene for hypospadias…”
Get more information

Rub epilepsy: a somatosensory evoked reflex epilepsy induced by prolonged cutaneous stimulation by Kanemoto, K, Watanabe, Y, Tsuji, T, Fukami, M, Kawasaki, J

“…TO DELINEATE RUB EPILEPSY a type of reflex epilepsy induced by prolonged or repetitive cutaneous stimulation in a circumscribed area of the body—three cases…”
Get full text

Genotypic differences in effects of cadmium on growth and nutrient compositions in wheat by Zhang, Guoping, Fukami, Motohiro, Sekimoto, Hitoshi

“…A solution culture study was conducted to determine the genotypic difference in the effects of cadmium (Cd) addition on growth and on the uptake and…”
Get full text

Association of primary ovarian insufficiency with a specific human leukocyte antigen haplotype (A24:02-C03:03-B35:01) in Japanese women by Ayabe, T, Ishizuka, B, Maruyama, T, Fukami, M, Yoshida, R, Uchida, H, Yoshimura, Y, Nagai, T, Ogata, T

“…Primary ovarian insufficiency (POI) is a heterogeneous condition defined by the triad of oligo/amenorrhea, elevated gonadotropins and estrogen deficiency in…”
Get more information

A heterozygous protein‐truncating RFX 6 variant in a family with childhood‐onset, pregnancy‐associated and adult‐onset diabetes by Akiba, K., Ushijima, K., Fukami, M., Hasegawa, Y.

“…Heterozygous protein‐truncating variants of RFX6 likely play a role in the development of diabetes in prepubertal children. Phenotypic severities of RFX6…”
Get full text