Search Results - "Kang, Changsoo"

Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering by Kang, Changsoo, Riazuddin, Sheikh, Mundorff, Jennifer, Krasnewich, Donna, Friedman, Penelope, Mullikin, James C, Drayna, Dennis

“…This study shows that variants of proteins that indirectly guide hydrolases to the lysosome are associated with stuttering. The authors analyzed genes at a…”
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A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans by Cha, Seongwon, Park, Ah Yeon, Kang, Changsoo

“…The thoracic-to-hip circumference ratio (THR) is an anthropometric marker recently described as a predictor of type 2 diabetes. In this study, we performed a…”
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Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14 by Pastore, Stephen F., Muhammad, Tahir, Harripaul, Ricardo, Lau, Rebecca, Khan, Muhammad Tariq Masood, Khan, Muhammad Ismail, Islam, Omar, Kang, Changsoo, Ayub, Muhammad, Jelani, Musharraf, Vincent, John B.

“…In a multi-branch family from Pakistan, individuals presenting with palmoplantar keratoderma segregate in autosomal dominant fashion, and individuals with…”
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Genetic approaches to understanding the causes of stuttering by Drayna, Dennis, Kang, Changsoo

“…Stuttering is a common but poorly understood speech disorder. Evidence accumulated over the past several decades has indicated that genetic factors are…”
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Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR by Chang, Mun Young, Kim, Ah Reum, Kim, Min Young, Kim, Soyoung, Yoon, Jinsun, Han, Jae Joon, Ahn, Soyeon, Kang, Changsoo, Choi, Byung Yoon

“…We developed a protocol of noninvasive prenatal testing (NIPT), employing a higher-resolution picodroplet digital PCR, to detect genetic imbalance in maternal…”
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Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family by Lee, Eunji, Rahman, Obaid Ur, Khan, Muhammad Tariq Masood, Wadood, Abdul, Naeem, Muhammad, Kang, Changsoo, Jelani, Musharraf

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A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family by Jelani, Musharraf, Kang, Changsoo, Mohamoud, Hussein Sheikh Ali, Al-Rehaili, Rayan, Almramhi, Mona Mohammad, Serafi, Rehab, Yang, Huanming, Al-Aama, Jumana Yousuf, Naeem, Muhammad, Alkhiary, Yaser Mohammad

“…Highlights • PFE is mainly associated with heterozygous mutations in PTH1R gene. • A PFE family with autosomal recessive inheritance underwent whole-exome…”
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Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non‐Herlitz junctional epidermolysis bullosa in two paternal half‐brothers from Saudi Arabia by Al‐Zahrani, Hams S., Al‐Tala, Saeed, Mohamoud, Hussein S. A., Al‐Shehri, Bandar A., Al‐Fadhel, Saeed, Al‐Qurashi, Ali, Al‐Bishri, Ahmad, Al‐Aama, Jumana Y., Kang, Changsoo, Betz, Regina C., Jelani, Musharraf

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Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation by Fedyna, Alison, Drayna, Dennis, Kang, Changsoo

“…Stuttering is a disorder that affects the fluency of speech. It has been shown to have high heritability and has recently been linked to mutations in the…”
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Evaluation of the association between polymorphisms at the DRD2 locus and stuttering by Kang, Changsoo, Domingues, Bianca Santos, Sainz, Eduardo, Domingues, Carlos Eduardo Frigério, Drayna, Dennis, Moretti-Ferreira, Danilo

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Genetics of speech and language disorders by Kang, Changsoo, Drayna, Dennis

“…Vocal communication mediated by speech and language is a uniquely human trait, and has served an important evolutionary role in the development of our species…”
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Genetic Polymorphisms of Selected DNA Repair Genes, Estrogen and Progesterone Receptor Status, and Breast Cancer Risk by Lee, Kyoung-Mu, Choi, Ji-Yeob, Kang, Changwon, Kang, Changsoo Paul, Park, Sue Kyung, Cho, Hyunmi, Cho, Dae-Yeon, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Park, Chung-Gyu, Wei, Qingyi, Kang, Daehee

“…Purpose: Genetic polymorphisms of DNA repair genes seem to determine the DNA repair capacity, which in turn may affect the risk of breast cancer. To evaluate…”
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A role for inherited metabolic deficits in persistent developmental stuttering by Kang, Changsoo, Drayna, Dennis

“…Stuttering is a common but poorly understood speech disorder. Consistent evidence for the involvement of genetic factors in stuttering has motivated studies…”
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A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities by Jelani, Musharraf, Dooley, Hannah C., Gubas, Andrea, Mohamoud, Hussein Sheikh Ali, Khan, Muhammad Tariq Masood, Ali, Zahir, Kang, Changsoo, Rahim, Fazal, Jan, Amin, Vadgama, Nirmal, Khan, Muhammad Ismail, Al-Aama, Jumana Yousuf, Khan, Asifullah, Tooze, Sharon A, Nasir, Jamal

“…Defects in autophagy are implicated in a growing number of diseases. Jelani et al. identify a mutation in WIPI2, a major autophagy gene, associated with a…”
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Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family by Aslam, Zain, Lee, Eungi, Badshah, Mazhar, Naeem, Muhammad, Kang, Changsoo

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Genetics of Speech and Language Disorders 1 by Kang, Changsoo, Drayna, Dennis

“…Vocal communication mediated by speech and language is a uniquely human trait, and has served an important evolutionary role in the development of our species…”
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One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR by Chang, Mun Young, Ahn, Soyeon, Kim, Min Young, Han, Jin Hee, Park, Hye-Rim, Seo, Han Kyu, Yoon, Jinsun, Lee, Seungmin, Oh, Doo-Yi, Kang, Changsoo, Choi, Byung Yoon

“…Previously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal…”
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Analysis of Mannose 6-Phosphate Uncovering Enzyme Mutations Associated with Persistent Stuttering by Lee, Wang-Sik, Kang, Changsoo, Drayna, Dennis, Kornfeld, Stuart

“…GlcNAc-1-phosphodiester-N-acetylglucosaminidase (“uncovering enzyme” (UCE); EC 3.1.4.45) is a Golgi enzyme that mediates the second step in the synthesis of…”
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A functional variant in FCRL3 , encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities by Yamada, Ryo, Kochi, Yuta, Suzuki, Akari, Harley, John B, Shirasawa, Senji, Sawada, Tetsuji, Bae, Sang-Cheol, Tokuhiro, Shinya, Chang, Xiaotian, Sekine, Akihiro, Takahashi, Atsushi, Tsunoda, Tatsuhiko, Ohnishi, Yozo, Kaufman, Kenneth M, Kang, Changsoo Paul, Kang, Changwon, Otsubo, Shigeru, Yumura, Wako, Mimori, Akio, Koike, Takao, Nakamura, Yusuke, Sasazuki, Takehiko, Yamamoto, Kazuhiko

“…Rheumatoid arthritis is a common autoimmune disease with a complex genetic etiology. Here we identify a SNP in the promoter region of FCRL3, a member of the Fc…”
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Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families by Rahman, Obaid Ur, Kim, Jeena, Mahon, Caroline, Jelani, Musharraf, Kang, Changsoo

“…Background Amyloidosis cutis dyschromica (ACD) is a rare variant of cutaneous amyloidosis. This disorder often clusters in families, and it has been suggested…”
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