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https://www.readbyqxmd.com/read/29441621/novel-interstitial-deletion-in-xp22-3-in-a-typical-x-linked-recessive-family-with-kallmann-syndrome
#1
Y Niu, C Zhou, H Xu, D Wang, Y Chen, Z Li, T Wang, G Pokhrel, D W Wang, J Liu
Kallmann syndrome (KS) is a clinically and genetically heterogeneous condition characterised by hypogonadotropic hypogonadism with anosmia or hyposmia. More than nineteen genes causing KS have been reported to date. KAL1, first identified to causing the X-linked form of KS, accounts for 10%-20% of KS patients. In this study, we designed a panel including 17 known genes causing KS for genetic diagnosis and research and report a typical and rare family of which three generations had been affected by KS. A novel CNV in Xp22...
February 14, 2018: Andrologia
https://www.readbyqxmd.com/read/29432577/sema3a-plays-a-role-in-the-pathogenesis-of-charge-syndrome
#2
Roser Ufartes, Janina Schwenty-Lara, Luisa Freese, Christiane Neuhofer, Janika Möller, Peter Wehner, Conny M A van Ravenswaaij-Arts, Monica T Y Wong, Ina Schanze, Andreas Tzschach, Oliver Bartsch, Annette Borchers, Silke Pauli
CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7. Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. Both features are common in CHARGE syndrome suggesting that SEMA3A may provide a genetic link between these syndromes. Indeed, we find evidence that SEMA3A plays a role in the pathogenesis of CHARGE syndrome...
February 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29399053/an-epidemiological-study-on-the-course-of-disease-and-therapeutic-considerations-in-relapsing-remitting-multiple-sclerosis-patients-receiving-injectable-first-line-disease-modifying-therapies-in-germany-epidem
#3
Stephan Schmidt, Jürgen Koehler, Christine Winterstein, Petra Schicklmaier, Boris Kallmann
Background: In relapsing-remitting multiple sclerosis (RRMS), 'no evidence of disease activity' (NEDA) is regarded as a key treatment goal. The increasing number of treatments allows for individualized treatment optimization in patients with suboptimal response to first-line disease-modifying therapies (DMTs). Therefore, monitoring of clinical and subclinical disease activity on DMTs has been recognized as an important component of long-term patient management. Methods: EPIDEM was a multicenter non-interventional retrospective study in a large cohort of RRMS patients receiving injectable DMTs for at least 2 years in outpatient centers throughout Germany...
2018: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/29361054/analysis-of-the-human-sox10-mutation-q377x-in-mice-and-its-implications-for-genotype-phenotype-correlation-in-sox10-related-human-disease
#4
Kathrin Truch, Juliane Arter, Tanja Turnescu, Matthias Weider, Anna C Hartwig, Ernst R Tamm, Elisabeth Sock, Michael Wegner
Human SOX10 mutations lead to various diseases including Waardenburg syndrome, Hirschsprung disease, peripheral demyelinating neuropathy, central leukodystrophy, Kallmann syndrome and various combinations thereof. It has been postulated that PCWH as a combination of Waardenburg and Hirschsprung disease, peripheral neuropathy and central leukodystrophy is caused by heterozygous SOX10 mutations that result in the presence of a dominantly acting mutant SOX10 protein in the patient. One such protein with postulated dominant action is SOX10 Q377X...
January 17, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29330225/genetics-in-endocrinology-genetic-counseling-for-congenital-hypogonadotropic-hypogonadism-and-kallmann-syndrome-new-challenges-in-the-era-of-oligogenism-and-next-generation-sequencing
#5
Luigi Maione, Andrew A Dwyer, Bruno Francou, Anne Guiochon-Mantel, Nadine Binart, Jerome Bouligand, Jacques Young
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients' offspring. Importantly patients and their families should be informed of this risk and given genetic counseling...
January 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29319252/kallmann-syndrome-and-chronic-myeloid-leukemia-a-rare-occurrence
#6
Neelam M Redkar, Udit Saraf, Rajit Pillai, Kavita J Rawat
No abstract text is available yet for this article.
October 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29280744/update-on-the-genetics-of-idiopathic-hypogonadotropic-hypogonadism
#7
A Kemal Topaloğlu
Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating variants in more than 50 genes have been reported to cause IHH. These mutations are estimated to account for up to 50% of all apparently hereditary cases. Identification of further causative gene mutations is expected to be more feasible with the increasing use of whole exome/genome sequencing. Presence of more than one IHH-associated mutant gene in a given patient/pedigree (oligogenic inheritance) is seen in 10-20% of all IHH cases...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29277616/anosmin-1-is-essential-for-neural-crest-and-cranial-placodes-formation-in-xenopus
#8
Chang-Joon Bae, Chang-Soo Hong, Jean-Pierre Saint-Jeannet
During embryogenesis vertebrates develop a complex craniofacial skeleton associated with sensory organs. These structures are primarily derived from two embryonic cell populations the neural crest and cranial placodes, respectively. Neural crest cells and cranial placodes are specified through the integrated action of several families of signaling molecules, and the subsequent activation of a complex network of transcription factors. Here we describe the expression and function of Anosmin-1 (Anos1), an extracellular matrix protein, during neural crest and cranial placodes development in Xenopus laevis...
December 22, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29228280/new-intronic-fibroblast-growth-factor-receptor-1-fgfr1-mutation-leading-to-disrupted-splicing-and-kallmann-syndrome
#9
J Känsäkoski, K Vaaralahti, T Raivio
Congenital hypogonadotropic hypogonadism (CHH), which can present with a defective sense of smell (Kallmann syndrome, KS), is a clinically and genetically heterogeneous disorder. Over 31 genes have been associated with CHH, but most of the patients still lack a molecular genetic diagnosis. Some cases may be explained by mutations that disrupt the splicing of already established CHH genes but that are unrecognized either because they are located deep in introns or are not predicted to disrupt splicing. Here we identified a patient with a previously unreported Fibroblast Growth Factor Receptor 1 (FGFR1) mutation, c...
December 8, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29223677/the-hypothalamus-pituitary-gonad-axis-tales-of-mice-and-men
#10
REVIEW
Athina Kaprara, Ilpo T Huhtaniemi
Reproduction is controlled by the hypothalamic - pituitary - gonadal (HPG) axis. Gonadotropin-releasing hormone (GnRH) neurons play a central role in this axis through production of GnRH, which binds to a membrane receptor on pituitary gonadotrophs and stimulates the biosynthesis and secretion of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Multiple factors affect GnRH neuron migration, GnRH gene expression, GnRH pulse generator, GnRH secretion, GnRH receptor expression, and gonadotropin synthesis and release...
December 6, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29211946/a-rare-anos1-variant-in-siblings-with-kallmann-syndrome-identified-by-whole-exome-sequencing
#11
D M Lopategui, A J Griswold, H Arora, R I Clavijo, M Tekin, R Ramasamy
Kallmann syndrome is a rare genetic condition causing congenital hypogonadotropic hypogonadism. It presents with delayed puberty, anosmia, and infertility. Here, we set out to identify a causative DNA variant for Kallmann syndrome in two affected brothers of Hispanic ancestry. The male siblings presented with a clinical diagnosis of Kallmann syndrome (anosmia, delayed puberty, azoospermia, and undetectable luteinizing hormone and follicle stimulating hormone levels). Genetic variations were investigated by whole exome sequencing...
December 6, 2017: Andrology
https://www.readbyqxmd.com/read/29202173/dcc-ntn1-complex-mutations-in-patients-with-congenital-hypogonadotropic-hypogonadism-impair-gnrh-neuron-development
#12
Justine Bouilly, Andrea Messina, Georgios Papadakis, Daniele Cassatella, Cheng Xu, James S Acierno, Brooke Tata, Gerasimos Sykiotis, Sara Santini, Yisrael Sidis, Eglantine Elowe-Gruau, Franziska Phan-Hug, Michael Hauschild, Pierre-Marc Bouloux, Richard Quinton, Mariarosaria Lang-Muritano, Lucie Favre, Laura Marino, Paolo Giacobini, Andrew A Dwyer, Nicolas J Niederländer, Nelly Pitteloud
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease characterized by absent puberty and infertility due to GnRH deficiency, and is often associated with anosmia (Kallmann syndrome, KS). The genetic etiology of CHH is heterogeneous, and more than 30 genes have been implicated in approximately 50% of patients with CHH. We hypothesized that genes encoding axon-guidance proteins containing fibronectin type-III (FN3) domains (similar to ANOS1, the first gene associated with KS), are mutated in CHH...
November 30, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29152903/reproductive-endocrine-phenotypes-relating-to-chd7-mutations-in-humans
#13
REVIEW
Ravikumar Balasubramanian, William F Crowley
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60-80% of cases) and represent the letter "G" in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels)...
November 20, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29108899/kallmann-syndrome-phenotype-and-genotype-of-hypogonadotropic-hypogonadism
#14
M I Stamou, N A Georgopoulos
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a genetically and clinically heterogeneous disorder. Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD genes are shown to interact with each other in an oligogenic manner. In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes"...
November 3, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29022642/induction-of-puberty-with-human-chorionic-gonadotropin-hcg-followed-by-reversal-of-hypogonadotropic-hypogonadism-in-kallmann-syndrome
#15
Malgorzata Maria Pierzchlewska, Maciej Grzegorz Robaczyk, Ida Vogel
INTRODUCTION: Kallmann syndrome (KS) is a rare, congenital disorder combining hypogonadotropic hypogonadism (HH) due to GnRH-deficiency with anosmia. Traditionally thought to require lifelong therapy it turns out to be a reversible condition in some patients. CASE REPORT: We present a case of a 22-year old man with absent puberty due to KS, in whom genetic testing revealed heterozygosity for a mutation in the PROK2 gene. Pubertal development and virilisation was achieved by using human chorionic gonadotropin (hCG) injections followed by testosterone replacement...
October 12, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/29018155/clinical-characteristics-of-138-chinese-female-patients-with-idiopathic-hypogonadotropic-hypogonadism
#16
Rui-Yi Tang, Rong Chen, Miao Ma, Shou-Qing Lin, Yi-Wen Zhang, Ya-Ping Wang
OBJECTIVE: To evaluate the clinical features of Chinese women with idiopathic hypogonadotropic hypogonadism (IHH). METHODS: We retrospectively reviewed the clinical characteristics, laboratory and imaging findings, therapeutic management and fertility outcomes of 138 women with IHH. All patients had been treated and followed up at an academic medical centre during 1990-2016. RESULTS: Among the 138 patients, 82 patients (59.4%) were diagnosed with normosmic IHH and 56 patients (40...
November 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28981617/transcription-factors-sp8-and-sp9-coordinately-regulate-olfactory-bulb-interneuron-development
#17
Jiwen Li, Chunyang Wang, Zhuangzhi Zhang, Yan Wen, Lei An, Qifei Liang, Zhejun Xu, Song Wei, Weiwei Li, Teng Guo, Guoping Liu, Guangxu Tao, Yan You, Heng Du, Zhuoning Fu, Miao He, Bin Chen, Kenneth Campbell, Arturo Alvarez-Buylla, John L Rubenstein, Zhengang Yang
Neural stem cells in the postnatal telencephalic ventricular-subventricular zone (V-SVZ) generate new interneurons, which migrate tangentially through the rostral migratory stream (RMS) into the olfactory bulb (OB). The Sp8 and Sp9 transcription factors are expressed in neuroblasts, as well as in the immature and mature interneurons in the V-SVZ-RMS-OB system. Here we show that Sp8 and Sp9 coordinately regulate OB interneuron development: although Sp9 null mutants show no major OB interneuron defect, conditional deletion of both Sp8 and Sp9 resulted in a much more severe reduction of OB interneuron number than that observed in the Sp8 conditional mutant mice, due to defects in neuronal differentiation, tangential and radial migration, and increased cell death in the V-SVZ-RMS-OB system...
August 1, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28970231/the-terminal-nerve-plays-a-prominent-role-in-gnrh-1-neuronal-migration-independent-from-proper-olfactory-and-vomeronasal-connections-to-the-olfactory-bulbs
#18
Ed Zandro M Taroc, Aparna Prasad, Jennifer M Lin, Paolo E Forni
Gonadotropin-releasing hormone-1 (GnRH-1) neurons (GnRH-1 ns) migrate from the developing olfactory pit into the hypothalamus during embryonic development. Migration of the GnRH-1 neurons is required for mammalian reproduction as these cells control release of gonadotropins from the anterior pituitary gland. Disturbances in GnRH-1 ns migration, GnRH-1 synthesis, secretion or signaling lead to varying degrees of hypogonadotropic hypogonadism (HH), which impairs pubertal onset and fertility. HH associated with congenital olfactory defects is clinically defined as Kallmann Syndrome (KS)...
October 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28963812/spectral-signatures-of-mirror-movements-in-the-sensori-motor-connectivity-in-kallmann-syndrome
#19
Renzo Manara, Federica Di Nardo, Alessandro Salvalaggio, Antonio Agostino Sinisi, Guglielmo Bonanni, Vincenzo Palumbo, Elena Cantone, Arturo Brunetti, Francesco Di Salle, Arianna D'errico, Andrea Elefante, Fabrizio Esposito
Mirror movements (MM) might be observed in congenital and acquired neurodegenerative conditions but their anatomic-functional underpinnings are still largely elusive. This study investigated the spectral changes of resting-state functional connectivity in Kallmann Syndrome (hypogonadotropic hypogonadism with hypo/anosmia with or without congenital MM) searching for insights into the phenomenon of MM. Forty-four Kallmann syndrome patients (21 with MM) and 24 healthy control subjects underwent task (finger tapping) and resting-state functional MRI...
September 30, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28915117/molecular-genetic-and-clinical-delineation-of-22-patients-with-congenital-hypogonadotropic-hypogonadism
#20
Kohei Aoyama, Haruo Mizuno, Tatsushi Tanaka, Takao Togawa, Yutaka Negishi, Kei Ohashi, Ikumi Hori, Masako Izawa, Takashi Hamajima, Shinji Saitoh
BACKGROUND: Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH. METHODS: We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation and Sanger sequencing. RESULTS: We detected 12 potentially pathogenic mutations in 11 families, with three having a mutation in ANOS1 (X-linked recessive); three and four having a mutation in FGFR1 and CHD7, respectively (autosomal dominant); and one having two TACR3 mutations (autosomal recessive)...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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