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Your search keyword '"Yesil, Gozde"' showing total 5 results
Start Over Author "Yesil, Gozde" Journal the journal of clinical endocrinology & metabolism
5 results on '"Yesil, Gozde"'

1. Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism

Author

Bayram, Yavuz, Gulsuner, Suleyman, Guran, Tulay, Abaci, Ayhan, Yesil, Gozde, Gulsuner, Hilal Unal, Atay, Zeynep, Pierce, Sarah B., Gambin, Tomasz, Lee, Ming, Turan, Serap, Bober, Ece, Atik, Mehmed M., Walsh, Tom, Karaca, Ender, Pehlivan, Davut, Jhangiani, Shalini N., Muzny, Donna, Bereket, Abdullah, Buyukgebiz, Atilla, Boerwinkle, Eric, Gibbs, Richard A., King, Mary-Claire, and Lupski, James R.

Published
2015

2. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

Author

Jolly, Angad, primary, Bayram, Yavuz, additional, Turan, Serap, additional, Aycan, Zehra, additional, Tos, Tulay, additional, Abali, Zehra Yavas, additional, Hacihamdioglu, Bulent, additional, Coban Akdemir, Zeynep Hande, additional, Hijazi, Hadia, additional, Bas, Serpil, additional, Atay, Zeynep, additional, Guran, Tulay, additional, Abali, Saygin, additional, Bas, Firdevs, additional, Darendeliler, Feyza, additional, Colombo, Roberto, additional, Barakat, Tahsin Stefan, additional, Rinne, Tuula, additional, White, Janson J, additional, Yesil, Gozde, additional, Gezdirici, Alper, additional, Gulec, Elif Yilmaz, additional, Karaca, Ender, additional, Pehlivan, Davut, additional, Jhangiani, Shalini N, additional, Muzny, Donna M, additional, Poyrazoglu, Sukran, additional, Bereket, Abdullah, additional, Gibbs, Richard A, additional, Posey, Jennifer E, additional, and Lupski, James R, additional

Published
2019
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3. Homozygous Loss-of-function Mutations inSOHLH1in Patients With Nonsyndromic Hypergonadotropic Hypogonadism

Author

Bayram, Yavuz, primary, Gulsuner, Suleyman, additional, Guran, Tulay, additional, Abaci, Ayhan, additional, Yesil, Gozde, additional, Gulsuner, Hilal Unal, additional, Atay, Zeynep, additional, Pierce, Sarah B., additional, Gambin, Tomasz, additional, Lee, Ming, additional, Turan, Serap, additional, Bober, Ece, additional, Atik, Mehmed M., additional, Walsh, Tom, additional, Karaca, Ender, additional, Pehlivan, Davut, additional, Jhangiani, Shalini N., additional, Muzny, Donna, additional, Bereket, Abdullah, additional, Buyukgebiz, Atilla, additional, Boerwinkle, Eric, additional, Gibbs, Richard A., additional, King, Mary-Claire, additional, and Lupski, James R., additional

Published
2015
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4. Homozygous Loss-of-function Mutations in SOHLH1in Patients With Nonsyndromic Hypergonadotropic Hypogonadism

Author

Bayram, Yavuz, Gulsuner, Suleyman, Guran, Tulay, Abaci, Ayhan, Yesil, Gozde, Gulsuner, Hilal Unal, Atay, Zeynep, Pierce, Sarah B., Gambin, Tomasz, Lee, Ming, Turan, Serap, Bober, Ece, Atik, Mehmed M., Walsh, Tom, Karaca, Ender, Pehlivan, Davut, Jhangiani, Shalini N., Muzny, Donna, Bereket, Abdullah, Buyukgebiz, Atilla, Boerwinkle, Eric, Gibbs, Richard A., King, Mary-Claire, and Lupski, James R.

Abstract

Context:Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropins and low sex steroids. Chromosomal aberrations and various specific gene defects can lead to hypergonadotropic hypogonadism. Responsible genes include those with roles in gonadal development or maintenance, sex steroid synthesis, or end-organ resistance to gonadotropins. Identification of novel causative genes in this disorder will contribute to our understanding of the regulation of human reproductive function.Objectives:The aim of this study was to identify and report the gene responsible for autosomal-recessive hypergonadotropic hypogonadism in two unrelated families.Design and Participants:Clinical evaluation and whole-exome sequencing were performed in two pairs of sisters with nonsyndromic hypergonadotropic hypogonadism from two unrelated families.Results:Exome sequencing analysis revealed two different truncating mutations in the same gene: SOHLH1c.705delT (p.Pro235fs*4) and SOHLH1c.27C>G (p.Tyr9stop). Both mutations were unique to the families and segregation was consistent with Mendelian expectations for an autosomal-recessive mode of inheritance.Conclusions:Sohlh1was known from previous mouse studies to be a transcriptional regulator that functions in the maintenance and survival of primordial ovarian follicles, but loss-of-function mutations in human females have not been reported. Our results provide evidence that homozygous-truncating mutations in SOHLH1cause female nonsyndromic hypergonadotropic hypogonadism.

Published
2015
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5. Homozygous Loss-of-function Mutations inSOHLH1in Patients With Nonsyndromic Hypergonadotropic Hypogonadism

Author

Ming Lee, Tom Walsh, Mehmed M. Atik, Yavuz Bayram, Serap Turan, Davut Pehlivan, Tulay Guran, Ece Böber, Mary Claire King, Richard A. Gibbs, Hilal Unal Gulsuner, James R. Lupski, Ayhan Abaci, Ender Karaca, Suleyman Gulsuner, Sarah B. Pierce, Gozde Yesil, Atilla Büyükgebiz, Shalini N. Jhangiani, Abdullah Bereket, Tomasz Gambin, Donna M. Muzny, Eric Boerwinkle, Zeynep Atay, Bayram, Yavuz, Gulsuner, Suleyman, Guran, Tulay, Abaci, Ayhan, Yesil, Gozde, Gulsuner, Hilal Unal, Atay, Zeynep, Pierce, Sarah B., Gambin, Tomasz, Lee, Ming, Turan, Serap, Bober, Ece, Atik, Mehmed M., Walsh, Tom, Karaca, Ender, Pehlivan, Davut, Jhangiani, Shalini N., Muzny, Donna, Bereket, Abdullah, Buyukgebiz, Atilla, Boerwinkle, Eric, Gibbs, Richard A., King, Mary-Claire, Lupski, James R., and YEŞİL, Gözde

Subjects
endocrine system, medicine.medical_specialty, Adolescent, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, TRANSFER-RNA SYNTHETASE, Context (language use), Biology, Biochemistry, PREMATURE OVARIAN FAILURE, Endocrinology, Hypergonadotropic hypogonadism, Internal medicine, Basic Helix-Loop-Helix Transcription Factors, medicine, Humans, Exome, TRANSCRIPTION FACTOR, Child, Loss function, Exome sequencing, GENE-EXPRESSION, JCEM Online: Advances in Genetics, HEARING-LOSS, Hypogonadism, SOHLH1, Homozygote, Biochemistry (medical), PERRAULT SYNDROME, OOGENESIS, medicine.disease, Sex steroid, Mutation, Chromosome abnormality, FOLLICULOGENESIS, Female, Gonadotropin, STEM-CELLS, DYSGENESIS
Abstract

Copyright © 2015 by the Endocrine Society.Context: Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropins and low sex steroids. Chromosomal aberrations and various specific gene defects can lead to hypergonadotropic hypogonadism. Responsible genes include those with roles in gonadal development or maintenance, sex steroid synthesis, or end-organ resistance to gonadotropins. Identification of novel causative genes in this disorder will contribute to our understanding of the regulation of human reproductive function. Objectives: The aim of this study was to identify and report the gene responsible for autosomal-recessive hypergonadotropic hypogonadism in two unrelated families. Design and Participants: Clinical evaluation and whole-exome sequencing were performed in two pairs of sisters with nonsyndromic hypergonadotropic hypogonadism from two unrelated families. Results: Exome sequencing analysis revealed two different truncating mutations in the same gene: SOHLH1 c.705delT (p.Pro235fs∗4) and SOHLH1 c.27C>G (p.Tyr9stop). Both mutations were unique to the families and segregation was consistent with Mendelian expectations for an autosomal-recessive mode of inheritance. Conclusions: Sohlh1 was known from previous mouse studies to be a transcriptional regulator that functions in the maintenance and survival of primordial ovarian follicles, but loss-of-function mutations in human females have not been reported. Our results provide evidence that homozygous-truncating mutations in SOHLH1 cause female nonsyndromic hypergonadotropic hypogonadism.

Published
2015

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